The repertoire of mutational signatures in human cancer

Alexandrov, Ludmil B.; Kim, Jaegil; Haradhvala, Nicholas J.; Huang, Mi Ni; Tian Ng, Alvin Wei; Wu, Yang; Boot, Arnoud; Covington, Kyle R.; Gordenin, Dmitry A.; Bergstrom, Erik N.; Islam, S. M. Ashiqul; Lopez-Bigas, Nuria; Klimczak, Leszek J.; McPherson, John R.; Morganella, Sandro; Sabarinathan, Radhakrishnan; Wheeler, David A.; Mustonen, Ville; Getz, Gad; Rozen, Steven G.; Stratton, Michael R.

doi:10.1038/s41586-020-1943-3

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Open Access
Published: 05 February 2020

The repertoire of mutational signatures in human cancer

Ludmil B. Alexandrov¹^na1,
Jaegil Kim²^na1,
Nicholas J. Haradhvala^2,3,
Mi Ni Huang^4,5,
Alvin Wei Tian Ng^4,5,
Yang Wu^4,5,
Arnoud Boot^4,5,
Kyle R. Covington^6,7,
Dmitry A. Gordenin⁸,
Erik N. Bergstrom¹,
S. M. Ashiqul Islam¹,
Nuria Lopez-Bigas^9,10,11,
Leszek J. Klimczak¹²,
John R. McPherson^4,5,
Sandro Morganella¹³,
Radhakrishnan Sabarinathan^10,14,15,
David A. Wheeler^6,16,
Ville Mustonen^17,18,19,
PCAWG Mutational Signatures Working Group,
Gad Getz^2,3,20,21^na2,
Steven G. Rozen^4,22,5^na2,
Michael R. Stratton¹³^na2 &
PCAWG Consortium

Nature volume 578, pages 94–101 (2020)Cite this article

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An Author Correction to this article was published on 25 January 2023

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Abstract

Somatic mutations in cancer genomes are caused by multiple mutational processes, each of which generates a characteristic mutational signature¹. Here, as part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium² of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA), we characterized mutational signatures using 84,729,690 somatic mutations from 4,645 whole-genome and 19,184 exome sequences that encompass most types of cancer. We identified 49 single-base-substitution, 11 doublet-base-substitution, 4 clustered-base-substitution and 17 small insertion-and-deletion signatures. The substantial size of our dataset, compared with previous analyses^{3,4,5,6,7,8,9,10,11,12,13,14,15}, enabled the discovery of new signatures, the separation of overlapping signatures and the decomposition of signatures into components that may represent associated—but distinct—DNA damage, repair and/or replication mechanisms. By estimating the contribution of each signature to the mutational catalogues of individual cancer genomes, we revealed associations of signatures to exogenous or endogenous exposures, as well as to defective DNA-maintenance processes. However, many signatures are of unknown cause. This analysis provides a systematic perspective on the repertoire of mutational processes that contribute to the development of human cancer.

Main

Somatic mutations in cancer genomes are caused by mutational processes of both exogenous and endogenous origin that operate during the cell lineage between the fertilized egg and the cancer cell¹⁶. Each mutational process may involve components of DNA damage or modification, DNA repair and DNA replication (which may be normal or abnormal), and generates a characteristic mutational signature that potentially includes base substitutions, small insertions and deletions (indels), genome rearrangements and chromosome copy-number changes¹. The mutations in an individual cancer genome may have been generated by multiple mutational processes, and thus incorporate multiple superimposed mutational signatures. Therefore, to systematically characterize the mutational processes that contribute to cancer, mathematical methods have previously been used to decipher mutational signatures from somatic mutation catalogues, estimate the number of mutations that are attributable to each signature in individual samples and annotate each mutation class in each tumour with the probability that it arose from each signature^{6,9,17,18,19,20,21,22,23,24,25,26,27}.

Previous studies of multiple types of cancer have identified more than 30 single-base substitution (SBS) signatures, some of known—but many of unknown—aetiologies, some ubiquitous and others rare, some part of normal cell biology and others associated with abnormal exposures or neoplastic progression^{3,4,5,7,8,9,10,11,12,13,14,15}. Genome rearrangement signatures have also previously been described^{11,25,28,29,30}. However, the analysis of other classes of mutation has been relatively limited^{3,11,31,32,33}.

Mutational signature analysis has predominantly used cancer exome sequences. However, the many-fold-greater numbers of somatic mutations in whole genomes provide substantially increased power for signature decomposition, enabling the better separation of partially correlated signatures and the extraction of signatures that contribute relatively small numbers of mutations. Furthermore, technical artefacts and differences in sequencing technologies and mutation-calling algorithms can themselves generate mutational signatures. Therefore, the uniformly processed and highly curated sets of all classes of somatic mutations from the 2,780 cancer genomes of the PCAWG project², combined with most other suitable cancer genomes (accession code syn11801889, available at https://www.synapse.org/#!Synapse:syn11801889), present a notable opportunity to establish the repertoire of mutational signatures and determine their activities across different types of cancer. The timing of these signatures during the evolution of individual cancers and the repertoire of signatures of structural variation have been explored in other PCAWG analyses^30,34.

Mutational signature analysis

The 23,829 samples—which include most types of cancer, and comprise the 2,780 PCAWG whole genomes², 1,865 additional whole genomes and 19,184 exomes—yielded 79,793,266 somatic SBSs, 814,191 doublet-base substitutions (DBSs) and 4,122,233 small indels that were analysed for mutational signatures, about 10-fold-more mutations than any previous study of which we are aware (syn11801889)⁶.

We developed classifications for each type of mutation. For SBSs, the primary classification comprised 96 classes (available at https://cancer.sanger.ac.uk/cosmic/signatures/SBS) constituted by the 6 base substitutions C>A, C>G, C>T, T>A, T>C and T>G (in which the mutated base is represented by the pyrimidine of the base pair), plus the flanking 5′ and 3′ bases. In some analyses, two flanking bases 5′ and 3′ to the mutated base were considered (producing 1,536 classes) or mutations within transcribed genome regions were selected and classified according to whether the mutated pyrimidine fell on the transcribed or untranscribed strand (producing 192 classes). We also derived a classification for DBSs (78 classes; available at https://cancer.sanger.ac.uk/cosmic/signatures/DBS). Indels were classified as deletions or insertions and—when of a single base—as C or T, and according to the length of the mononucleotide repeat tract in which they occurred. Longer indels were classified as occurring at repeats or with overlapping microhomology at deletion boundaries, and according to the size of indel, repeat and microhomology (83 classes; available at https://cancer.sanger.ac.uk/cosmic/signatures/ID).

The PCAWG whole-genome sequences, the additional whole-genome sequences and the exome sequences were each analysed separately (syn11801889)². Signatures were extracted from each type of cancer individually, from all cancer types together, as separate SBS, DBS and indel signatures, and as composite signatures of all three types of mutation (Supplementary Note 2).

We used two methods based on nonnegative matrix factorization (NMF): SigProfiler, an elaborated version of the framework used for the previous ‘Catalogue Of Somatic Mutations In Cancer’ (COSMIC) compendium of mutational signatures (COSMIC v.2, available at https://cancer.sanger.ac.uk/cosmic/signatures_v2)^11,17, and SignatureAnalyzer, which is based on a Bayesian variant of NMF^9,27,35. NMF determines the signature profiles and contributions of each signature to each cancer genome as part of its factorization of the input matrix of mutation spectra. However, with many signatures and/or heterogeneous mutation burdens across samples, the mutations observed in a particular sample can be reconstructed in multiple ways—often with small and/or biologically implausible contributions from many signatures. Therefore, each method has developed a separate procedure for estimating the contributions of signatures to each sample (Methods).

We tested SignatureAnalyzer and SigProfiler on 11 sets of synthetic data (including 64,400 synthetic samples), generated from known signature profiles (Methods, Supplementary Note 2). Both methods performed well in re-extracting known signatures from realistically complex data. Extracted signatures that were discordant from the known input usually arose from difficulties in selecting the correct number of signatures. The results confirm that use of NMF-based approaches for extracting mutational signatures is not a purely algorithmic process, but also requires consideration of evidence from experimentally determined mutational signatures and the DNA damage and repair literature, prior evidence of biological plausibility and human-guided sensitivity analysis confirming that extractions from different groupings of tumours yield consistent results. We used these types of evidence and approaches in determining the signature profiles reported here. The findings are consistent with results regarding NMF, and the related areas of probabilistic topic modelling and latent Dirichlet allocation, in multiple problem domains^36,37. It is widely understood that the choice of the number of latent variables (for our purposes, the number of mutational signatures) is rarely amenable to complete automation.

The results from our SigProfiler and SignatureAnalyzer analyses of cancer data exhibited many similarities, and we assigned the same identifiers to similar signatures extracted using the two methods (syn12016215). However, there were also noteworthy differences. The numbers of SBS signatures found in PCAWG tumours with a low mutation burden (94.4% of cases that contain 47% of mutations) were similar: 31 using SigProfiler and 35 using SignatureAnalyzer. However, the numbers of additional SBS signatures extracted from hypermutated PCAWG samples (5.6% of cases, containing 53% of mutations) were different: 13 using SigProfiler and 25 using SignatureAnalyzer. There were also differences in SBS signature profiles, including among signatures found in cases with a low mutation burden. The latter primarily involved relatively featureless (‘flat’) signatures, which are mathematically challenging to deconvolute. Finally, there were differences in signature attributions to individual samples. SignatureAnalyzer used more signatures to reconstruct the mutational profiles (Extended Data Fig. 1) (syn12169204 and syn12177011) and attributions to flat signatures were different (Extended Data Fig. 2a, b) (syn12169204). The DBS and indel signatures were generally similar between the two methods (Extended Data Fig. 2c, d).

The final reference mutational signatures were determined from the PCAWG set, supplemented by additional signatures from the other datasets (COSMIC, available at https://cancer.sanger.ac.uk/cosmic/signatures). Each signature was allocated an identifier consistent with, and extending, the COSMIC v.2 annotation. Some previous signatures split into multiple constituent signatures: these were numbered as in the previous annotation, but with additional letter suffixes (for example, SBS17 was split into SBS17a and SBS17b). DNA sequencing and analysis artefacts also generate mutational signatures. We indicate which signatures are possible artefacts but do not present them below (full information is available at https://cancer.sanger.ac.uk/cosmic/signatures). The results of both SignatureAnalyzer and SigProfiler were used throughout the study. However, for brevity and for continuity with the signature set previously displayed in COSMIC v.2—which has been widely used as a reference—SigProfiler results are outlined here, and SignatureAnalyzer results are provided in Extended Data Figs. 3, 4 and at syn11738307.

Single-base substitution signatures

There were substantial differences in the numbers of SBSs between samples (ranging from hundreds to millions) and between cancer types³⁸ (Fig. 1). In total, 67 SBS mutational signatures were extracted, of which 49 were considered likely to be of biological origin (Fig. 2, Methods; available at https://cancer.sanger.ac.uk/cosmic/signatures/SBS/). Except for signature SBS25, all signatures reported in COSMIC v.2 (ref. ⁶) were confirmed; the median cosine similarity between the newly derived signatures and those on COSMIC v.2 was 0.95, excluding the ‘split’ signatures (discussed below). SBS25 was previously found in cell lines derived from Hodgkin lymphomas treated with chemotherapy, and no primary cancers of this type were available. The newly derived signatures showed much improved separation from each other and more-distinct signature profiles, as compared with COSMIC v.2 signatures (see ‘Better separation compared to COSMIC v.2 signatures’ in Supplementary Note 2 for more information).

**Fig. 1: Mutation burdens of SBSs, DBSs and small indels across PCAWG tumour types.**

**Fig. 2: Profiles of SBS, DBS and small indel mutational signatures.**

Thirteen of the SBS signatures we extracted (excluding those due to signature splitting) represent newly identified and probably real signatures, not present in COSMIC v.2. Some were rare (SBS31, SBS32, SBS35, SBS36, SBS42 and SBS44). Others were more common, but contributed relatively few mutations and/or were similar to previously discovered signatures (SBS38, SBS39 and SBS40). Notably, SBS40 is a flat signature similar to SBS5. It contributes to multiple types of cancer, but its similarity to SBS5 renders the extent of this contribution uncertain. For some of the newly identified signatures, there were plausible underlying aetiologies (Fig. 3, Extended Data Figs. 4, 5): for SBS31 and SBS35, platinum compound chemotherapy³⁹; for SBS32, azathioprine therapy; for SBS36, inactivating germline or somatic mutations in MUTYH (which encodes a component of the base excision repair machinery)^40,41; for SBS38, additional effects of exposure to ultraviolet (UV) light; for SBS42, occupational exposure to haloalkanes¹³; and for SBS44, defective DNA mismatch repair⁴².

**Fig. 3: The number of mutations contributed by each mutational signature to the PCAWG tumours.**

Three previously characterized base substitution signatures (SBS7, SBS10 and SBS17) split into multiple constituent signatures (Fig. 2). Signature splitting probably reflects the existence of multiple distinct mutational processes initiated by the same exposure that have closely—but not perfectly—correlated activities. We previously regarded SBS7 as a single signature composed predominantly of C>T at CCN and TCN trinucleotides (the mutated base is underlined) together with many fewer T>N mutations. It was found in malignant melanomas and squamous skin carcinomas, and is probably due to the UV-light-induced formation of pyrimidine dimers, followed by translesion DNA synthesis by error-prone polymerases predominantly inserting A opposite to damaged cytosines. SBS7 has now been decomposed into four constituent signatures. SBS7a and SBS7b (consisting mainly of C>T at TCN and C>T at CCN, respectively) may reflect different pyrimidine-dimer photoproducts. SBS7c and SBS7d (consisting predominantly of T>A at NTT and T>C at NTT, respectively⁴³) may be due to low frequencies of the misincorporation of T and G opposite to thymines in pyrimidine dimers. The splitting of SBS10 and SBS17 is described at https://cancer.sanger.ac.uk/cosmic/signatures/SBS/.

Several base substitution signatures showed transcriptional strand bias, which may be attributable to transcription-coupled nucleotide excision repair acting on DNA damage and/or to an excess of DNA damage on untranscribed strands of genes⁴⁴. Both mechanisms result in more mutations of damaged bases on untranscribed than on transcribed strands of genes. Assuming that either mechanism is responsible for the observed transcriptional strand biases, DNA damage to cytosine (SBS7a and SBS7b), guanine (SBS4, SBS8, SBS19, SBS23, SBS24, SBS31, SBS32, SBS35 and SBS42), thymine (SBS7c, SBS7d, SBS21, SBS26 and SBS33) and adenine (SBS5, SBS12, SBS16, SBS22 and SBS25) may underlie these mutational signatures (plots of strand bias are available at https://cancer.sanger.ac.uk/cosmic/signatures/SBS/). The likely DNA-damaging agents are known for SBS4 (tobacco mutagens), SBS7a, SBS7b, SBS7c and SBS7d (UV light), SBS22 (aristolochic acid), SBS24 (aflatoxin), SBS25 (chemotherapy), SBS31 and SBS35 (platinum compounds), SBS32 (azathioprine) and SBS42 (haloalkanes).

Using the SBS classification of 1,536 mutation types, which uses the sequence context two bases 5′ and two bases 3′ to each mutated base, yielded signatures that are largely consistent with those based on substitutions in trinucleotide contexts. Notably, however, two forms of both SBS2 and SBS13 were extracted, one with mainly a pyrimidine and the other with mainly a purine at the −2 base (the second base 5′ to the mutated cytosine). These may represent the activities of the cytidine deaminases APOBEC3A and APOBEC3B, respectively⁴⁵. If so, APOBEC3A accounts for many more mutations than APOBEC3B in cancers with high APOBEC activity. Other signatures showed nonrandom sequence contexts at +2 and −2 positions (for example, SBS17a, SBS17b and SBS9), but sequence context effects were generally much stronger for bases immediately 5′ and 3′ to mutated bases.

SBS signatures showed substantial variation in the numbers of cancer types and cancer samples in which they were found, and in the mutations attributed per cancer sample (Fig. 3). Almost all individual cancer samples exhibited multiple signatures, with a mode of three in the PCAWG set (syn12169204). The assigned signatures reconstruct well the mutational spectra of the cancer samples (in PCAWG samples, the median cosine similarity was 0.97; 96.3% of samples with cosine similarity >0.90): Fig. 4 shows illustrative examples.

**Fig. 4: Illustrative examples of mutational spectra of individual cancer samples.**

Some mutational processes generate base substitutions that cluster in small genomic regions. The limited numbers of such mutations may result in a failure to detect their signatures using standard methods. We therefore identified clustered mutations in each genome and analysed them separately (Methods). Four main clustered mutational signatures were identified (Fig. 2), as previously reported^4,27,32. Two, which are found in multiple types of cancer, were similar to SBS2 and SBS13 (which have been attributed to APOBEC enzyme activity) and represent foci of kataegis^3,32,46. Two further clustered signatures, one characterized by C>T and C>G mutations at (A or G)C(C or T) trinucleotides⁴⁷ and the other T>A and T>C mutations at (A or T)T(A or T), were found in lymphoid neoplasms; they probably represent the direct and indirect consequences of activation-induced cytidine deaminase mutagenesis and translesion DNA synthesis by error-prone polymerases (SBS84 and SBS85, respectively)²⁷.

Doublet-base substitution signatures

Tandem doublet, triplet, quadruplet, quintuplet and sextuplet base substitutions (syn11801938 and syn11726620) were observed at about 1% the prevalence of SBSs. In most cancer genomes, the number of DBSs was considerably higher than would be expected from the random adjacency of SBSs (syn12177057), indicating the existence of commonly occurring, single mutagenic events that cause substitutions at neighbouring bases. There was substantial variation in the number of DBSs, ranging from 0 to 20,818 in a sample. The numbers of DBSs were generally proportional to the numbers of SBSs (Fig. 1), although colorectal adenocarcinomas had fewer than expected, and lung cancers and melanomas had more (Extended Data Table 1). We extracted eleven DBS signatures (Fig. 2, of which three have previously been reported^33,48.

Signature DBS1 was characterized by CC>TT mutations (Fig. 2), contributed hundreds to tens of thousands of mutations in malignant melanomas with SBS7a and SBS7b (Fig. 3), exhibited transcriptional strand bias consistent with damage to cytosines (syn12177063) and is a known consequence of DNA damage induced by UV light^33,49. Excluding cancers associated with exposure to UV light also yielded a signature (DBS11) that was characterized predominantly by CC>TT mutations, but only contributing tens of mutations in many samples from multiple types of cancer (Figs. 2, 3). DBS11 was associated with SBS2, which is due to APOBEC activity: APOBEC activity may, therefore, also generate DBS11.

DBS2 was composed predominantly of CC>AA mutations, with smaller numbers of CC>AG and CC>AT mutations, and contributed hundreds to thousands of mutations in lung adenocarcinoma, lung squamous and head and neck squamous carcinomas, which are often caused by tobacco smoking³³ (Figs. 2, 3). DBS2 showed transcriptional strand bias indicative of guanine damage (syn12177064) and was associated with SBS4, which is caused by exposure to tobacco smoke. It is likely, therefore, that DBS2 can be a consequence of DNA damage by tobacco-smoke mutagens.

A signature similar to DBS2 contributed hundreds of mutations to liver cancers and tens of mutations to other types of cancer without evidence of exposure to tobacco smoke. A pattern resembling DBS2 also dominates DBSs in healthy mouse cells⁵⁰. The nature of the mutational processes that underlie these signatures in human cancers that are unrelated to smoking, and in healthy mice, is unknown. However, in experimental systems, acetaldehyde exposure has been shown to generate a mutational signature characterized primarily by CC>AA mutations, and lower burdens of CC>AG and CC>AT mutations, together with C>A SBSs⁴⁸. Acetaldehyde is an oxidation product of alcohol and a constituent of cigarette smoke. The role of acetaldehyde, and perhaps other aldehydes, in generating DBS2 merits further investigation⁵¹.

DBS3, DBS7, DBS8 and DBS10 showed hundreds to thousands of mutations in rare colorectal, stomach and oesophageal cancers, some of which showed evidence of defective DNA mismatch repair (DBS7 and DBS10) or polymerase epsilon exonuclease domain mutations (DBS3) that generate hypermutator phenotypes (Figs. 2, 3). DBS5 was found in cancers exposed to platinum chemotherapy, and is associated with SBS31 and SBS35.

Small insertion-and-deletion signatures

Indels were usually present at about 10% of the frequency of base substitutions (Fig. 1). There was substantial variation between cancer genomes in the number of indels, even when cancers with evidence of defective DNA mismatch repair were excluded. Overall, the numbers of deletions and insertions were similar, but there was variation between cancer types: some cancers showed more deletions and others more insertions of various subtypes (Fig. 1). We extracted 17 indel mutational signatures (Fig. 2).

Indel signature 1 (ID1) was composed predominantly of insertions of thymine and ID2 was composed predominantly of deletions of thymine, both at long (≥5) thymine mononucleotide repeats (Fig. 2). Tens to hundreds of mutations of both signatures were found in most samples of most types of cancer, but were particularly common in colorectal, stomach, endometrial and oesophageal cancers and in diffuse large B cell lymphoma (Fig. 3). Together, ID1 and ID2 accounted for 97% and 45% of indels in hypermutated and non-hypermutated cancer genomes, respectively (Extended Data Table 2). They are probably due to slippage of either the nascent (ID1) or template strand (ID2) during DNA replication of long mononucleotide tracts.

ID3 was characterized predominantly by deletions of cytosine at short (≤5-bp long) mononucleotide cytosine repeats and exhibited hundreds of mutations in cancers of the lung, head and neck that are associated with tobacco smoking (Figs. 2, 3). There was transcriptional strand bias of mutations, with more guanine deletions than cytosine deletions on the untranscribed strands of genes, which is compatible with transcription-coupled nucleotide excision repair of damaged guanine (syn12177065 and syn12177066). The numbers of ID3 mutations positively correlated with the numbers of SBS4 and DBS2 mutations, which we have shown are associated with tobacco smoking (Extended Data Figs. 6, 7). Thus, DNA damage by components of tobacco smoke probably underlie ID3.

ID13 was characterized predominantly by deletions of thymine at thymine–thymine dinucleotides and exhibited large numbers of mutations in malignant melanomas of the skin (Figs. 2, 3). The numbers of ID13 mutations correlated with the numbers of SBS7a, SBS7b and DBS1 mutations, which we have attributed to DNA damage induced by UV light (Extended Data Figs. 6, 7). However, deletions of cytosine at cytosine–cytosine dinucleotides did not feature strongly in ID13, which may reflect the predominance of thymine compared to cytosine dimers induced by UV light⁵².

ID6 and ID8 were both characterized predominantly by ≥5-bp deletions (Fig. 2). ID6 exhibited overlapping microhomology at deletion boundaries with a mode of 2 bp (and often longer stretches) and correlated with SBS3, which we have attributed to defective homologous-recombination-based repair (Extended Data Figs. 6, 7). By contrast, ID8 deletions showed shorter or no microhomology at deletion boundaries and did not strongly correlate with SBS3. Both deletion patterns may be characteristic of DNA double-strand-break repair by non-homologous-recombination-based end-joining mechanisms and—if so—this suggests that at least two distinct forms are operative in human cancer⁵³.

A small fraction of cancers exhibited very large numbers of ID1 and ID2 mutations (>10,000) (Fig. 3) (shown at https://cancer.sanger.ac.uk/cosmic/signatures/ID). These were usually accompanied by SBS6, SBS14, SBS15, SBS20, SBS21, SBS26 and/or SBS44, which are associated with deficiency in DNA mismatch repair—sometimes combined with POLE or POLD1 proofreading deficiency (SBS14 and SBS20)³⁵. Occasional cases with these signatures additionally showed large numbers of indels attributed to ID7 (syn11738668), and rare samples showed large numbers of ID4, ID11, ID14, ID15, ID16 or ID17 mutations but did not show large numbers of ID1 and ID2 mutations or the SBS signatures associated with deficiency in DNA mismatch repair.

Correlations with age

A positive correlation between age of cancer diagnosis and the number of mutations attributable to a signature suggests that the underlying mutational process has been operative (at a more or less constant rate) throughout the cell lineage from fertilized egg to cancer cell, and thus in the normal cells from which that type of cancer develops^6,54. Confirming previous reports^6,54, the numbers of SBS1 and SBS5 mutations correlate with age, and exhibit different rates in different types of tissue (q values provided in syn12030687, syn20317940 and syn12217988). SBS40 also correlated with age in multiple types of cancer, although—given its similarity to SBS5—misattribution cannot be excluded. DBS2 and DBS4 correlated with age; consistent with activity in normal cells and, when combined their profiles closely resemble the spectrum of DBS mutations found in normal mouse cells⁵⁰. ID1, ID2, ID5 and ID8 showed correlations with age in multiple tissues. ID1 and ID2 indels are probably due to slippage at poly T repeats during DNA replication and correlated with the numbers of SBS1 substitutions, which have previously been proposed to reflect the number of mitoses a cell has experienced⁶. Thus, SBS1, ID1 and ID2 may all be generated during DNA replication at mitosis. The number of ID5 mutations correlated with the number of SBS40 mutations, and the mutational processes that underlie these two age-correlated signatures may therefore contain common components. ID8, which is predominantly composed of ≥5-bp deletions with no or 1 bp of microhomology at their boundaries, is probably due to DNA double-strand breaks repaired by a non-homologous-end-joining mechanism. The results indicate that multiple mutational processes operate in normal cells.

Discussion

There are important constraints, limitations and assumptions in the analytic frameworks used here to characterize mutational signatures. Signatures extracted from sample sets in which multiple processes are operative remain mathematical approximations, with profiles that are potentially influenced by the mathematical approach used and other factors. For conceptual and practical simplicity, we assume that a single signature is associated with each mutational process and provide an average reference signature to represent it. However, we do not discount the possibility that further nuances and variations of signature profiles exist. We have estimated the contributions from each signature to the mutation burden in each sample. However, with increasing numbers of signatures and differences of multiple orders of magnitude in mutation burdens between some signatures, prior knowledge has helped to avoid biologically implausible results. Thus, the further development of methods for deciphering and attributing mutational signatures is warranted, ideally supported by signatures derived from experimental systems in which the causes are known. Nevertheless, signatures with many similarities and some differences can be found by different mathematical approaches, and these can be confirmed in several ways, including experimentally elucidated signatures^{5,31,39,42,43,54,55,56,57,58,59,60,61,62} and tumours dominated by a single signature (syn12016215).

This analysis includes most publicly available exome and whole-genome cancer sequences. Some rare or geographically restricted signatures may not have been captured, signatures conferring limited mutation burdens may have been missed and signatures of therapeutic mutagenic exposures have not been exhaustively explored. Nevertheless, it is likely that a substantial proportion of the naturally occurring mutational signatures found in human cancer have now been described. This comprehensive repertoire provides a foundation for research into the aetiologies of geographical and temporal differences in cancer incidence, the mutational processes that operate in healthy tissues and non-neoplastic disease states, clinical and public health applications of signatures and mechanistic understanding of the mutational processes that underlie carcinogenesis.

Methods

No statistical methods were used to predetermine sample size. The experiments were not randomized and investigators were not blinded to allocation during experiments and outcome assessment.

These online methods contain an abridged description of the methodology used in the current manuscript; extensive details about the methodology we used are provided in Supplementary Note 2. Importantly, two independently developed computational frameworks (SigProfiler and SignatureAnalyzer) based on NMF were applied separately to the examined sets of mutational catalogues. SigProfiler and SignatureAnalyzer take different approaches for deciphering mutational signatures and for assigning each signature to each sample. By using two methods, we aimed to provide a perspective on the effect that different methodologies can have on the numbers of signatures generated, signature profiles and attributions. In addition to applying SigProfiler and SignatureAnalyzer to cancer data, the tools were also applied to realistic synthetic data with known solutions.

Analysis of mutational signatures with SigProfiler

SigProfiler incorporates two distinct steps for identification of mutational signatures, based on the previously described methodology^6,11,17 (Extended Data Fig. 8). The first step (SigProfilerExtraction) encompasses a hierarchical de novo extraction of mutational signatures based on somatic mutations and their immediate sequence context, and the second step (SigProfilerAttribution) focuses on accurately estimating the number of somatic mutations associated with each extracted mutational signature in each sample. SigProfilerExtraction is an extension of a previous framework for the analysis of mutational signatures^11,17. In brief, for a given set of mutational catalogues, the algorithm deciphers a minimal set of mutational signatures that optimally explains the proportion of each mutation type and estimates the contribution of each signature to each sample. More specifically, for each NMF iteration, SigProfilerExtraction minimizes a generalized Kullback–Leibler divergence constrained for nonnegativity (Supplementary Note 2). The algorithm uses multiple NMF iterations (in most cases 1,024) to identify the matrix of mutational signatures and the matrix of the activities of these signatures, as previously described¹⁷. The unknown number of signatures is determined by human assessment of the stability and accuracy of solutions for a range of values, as previously described¹⁷. The framework is applied hierarchically to increase its ability to find mutational signatures that generate few mutations or are present in few samples.

After signatures are discovered by SigProfilerExtraction, SigProfilerAttribution estimates their contributions to individual samples. For each examined sample, the estimation algorithm involves finding the minimum of the Frobenius norm of a constrained function using a nonlinear convex optimization programming solver using the interior-point algorithm⁶³. See Supplementary Note 2 and Extended Data Fig. 8b for further details.

Analysis of mutational signatures with SignatureAnalyzer

SignatureAnalyzer uses a Bayesian variant of NMF that infers the number of signatures through the automatic relevance determination technique and delivers highly interpretable and sparse representations for both signature profiles and attributions that strike a balance between data fitting and model complexity. Further details of the actual implementation of the computational approach have previously been published^9,27,64. SignatureAnalyzer was applied by using a two-step signature extraction strategy using 1,536 pentanucleotide contexts for SBSs, 83 indel features and 78 DBS features. In addition to the separate extraction of SBS, indel and DBS signatures, we performed a ‘COMPOSITE’ signature extraction based on all 1,697 features (1,536 SBS + 78 DBS + 83 indel). For SBSs, the 1,536 SBS COMPOSITE signatures are preferred; for DBSs and indels, the separately extracted signatures are preferred.

In step 1 of the two-step extraction process, global signature extraction was performed for the samples with a low mutation burden (n = 2,624). These excluded hypermutated tumours: those with putative polymerase epsilon (POLE) defects or mismatch repair defects (microsatellite instable tumours), skin tumours (which had intense UV-light mutagenesis) and one tumour with temozolomide (TMZ) exposure. Because the underlying algorithm of SignatureAnalyzer performs a stochastic search, different runs can produce different results. In step 1, we ran SignatureAnalyzer 10 times and selected the solution with the highest posterior probability. In step 2, additional signatures unique to hypermutated samples were extracted (again selecting the highest posterior probability over ten runs) while allowing all signatures found in the samples with low mutation burden, to explain some of the spectra of hypermutated samples. This approach was designed to minimize a well-known ‘signature bleeding’ effect or a bias of hyper- or ultramutated samples on the signature extraction. In addition, this approach provided information about which signatures are unique to the hypermutated samples, which was later used when attributing signatures to samples.

A similar strategy was used for signature attribution: we performed a separate attribution process for low- and hypermutated samples in all COMPOSITE, SBS, DBS and indel signatures. For downstream analyses, we preferred to use the COMPOSITE attributions for SBSs and the separately calculated attributions for DBSs and indels. Signature attribution in samples with a low mutation burden was performed separately in each tumour type (for example, Biliary–AdenoCA, Bladder–TCC, Bone–Osteosarc, and so on). Attribution was also performed separately in the combined microsatellite instable tumours (n = 39), POLE (n = 9), skin melanoma (n = 107) and TMZ-exposed samples (syn11738314). In both groups, signature availability (which signatures were active, or not) was primarily inferred through the automatic relevance determination process applied to the activity matrix H only, while fixing the signature matrix W. The attribution in samples with a low mutation burden was performed using only signatures found in the step 1 of the signature extraction. Two additional rules were applied in SBS signature attribution to enforce biological plausibility and minimize a signature bleeding: (i) allow SBS4 (smoking signature) only in lung, head and neck cases; and (ii) allow SBS11 (TMZ signature) in a single GBM sample. This was enforced by introducing a binary, signature-by-sample signature indicator matrix Z (1, allowed; 0, not allowed), which was multiplied by the H matrix in every multiplication update of H. No additional rules were applied to indel or DBS signature attributions, except that signatures found in hypermutated samples were not allowed in samples with a low mutation burden.

Application of SigProfiler and SignatureAnalyzer to synthetic data

Our goal was to evaluate SignatureAnalyzer and SigProfiler on realistic synthetic data to identify any potential limitations of these two methods. SignatureAnalyzer and SigProfiler were tested on 11 sets of synthetic data, encompassing a total of 64,400 synthetic samples, in which known signature profiles were used to generate catalogues of synthetic mutational spectra. We operationally defined ‘realistic’ data as those based on the characteristics of either SignatureAnalyzer’s or SigProfiler’s analysis of the PCAWG genome data. SignatureAnalyzer’s reference signature profiles were based on COMPOSITE signatures, consisting of 1,536 types of strand-agnostic SBSs in pentanucleotide context, 78 types of DBSs and 83 types of small indels, for a total of 1,697 mutation types. SigProfiler’s reference analysis was based on strand-agnostic SBSs in the context of one 5′ and one 3′ base. For each test, we generated two sets of realistic data: SigProfiler-realistic (based on SigProfiler’s reference signatures and attributions) and SignatureAnalyzer-realistic (based on SignatureAnalyzer’s reference signatures and attributions), as well as two other types of data that involved using SignatureAnalyzer profiles with SigProfiler attributions and vice versa. A detailed description of each of the 11 sets of synthetic data and the results from applying SigProfiler and SignatureAnalyzer are provided in Supplementary Note 2.

Analysis of clustered mutational signatures

Somatic SBSs were considered clustered if they had intermutational distances < 1,000 bp. More specifically, for each sample, an SBS mutational catalogue was generated for substitutions that were <1,000 bp from another substitution. Subsequently, the set of SBS mutational catalogues containing clustered mutations underwent de novo extraction of mutational signatures. Any novel mutational signature (one that was not previously observed in the complete SBS catalogues) was reported as a clustered mutational signature.

Better separation compared to COSMIC v.2 signatures

As described in the manuscript, all mutational signatures previously reported in COSMIC v.2 were confirmed in the new set of analyses with median cosine similarity of 0.95. However, the separation between the COSMIC v.2 mutational signatures (https://cancer.sanger.ac.uk/cosmic/signatures_v2) is much worse than the separation between the mutational signatures reported here. For example, in COSMIC v.2, signatures 5 and 16 had a cosine similarity of 0.90, making them hard to distinguish from one another. By contrast, in the current analysis, SBS5 and SBS16 have a cosine similarity of 0.65. This allows us to unambiguously assign SBS5 and SBS16 to different samples. In the current analysis, the larger number of samples has allowed the reduction of bleeding between signatures and has given more unique and easily distinguishable signatures. One can evaluate the overall separation of a set of mutational signatures by examining the distribution of cosine similarities between the signatures in the set. The signatures in COSMIC v.2 had a median cosine similarity of 0.238. By contrast, the current signatures have a much lower median cosine similarity of 0.098. This twofold reduction in similarity is highly statistically significant (P value 9.1 × 10⁻²⁵) and indicates a better separation between the signatures in the current analysis.

Correlations of mutational signature activity with age

Before evaluating the association between age and the activity of a mutational signature, all outliers for both age and numbers of mutations attributed to a signature in a cancer type were removed from the data. An outlier was defined as any value outside three standard deviations from the mean value. A robust linear regression model that estimated the slope of the line and whether this slope was significantly different from zero (F test; P value < 0.05) was performed using the MATLAB function robustfit (https://www.mathworks.com/help/stats/robustfit.html) with default parameters. The P values from the F tests were corrected using the Benjamini–Hochberg procedure for false discovery rates. Results are available at syn12030687 and syn20317940.

Reporting summary

Further information on research design is available in the Nature Research Reporting Summary linked to this paper.

Data availability

Somatic and germline variant calls, mutational signatures, subclonal reconstructions, transcript abundance, splice calls and other core data generated by the ICGC and TCGA PCAWG Consortium are described in ref. ², and are available for download at https://dcc.icgc.org/releases/PCAWG. Additional information on accessing the data, including raw read files, can be found at https://docs.icgc.org/pcawg/data/. In accordance with the data access policies of the ICGC and TCGA projects, most molecular, clinical and specimen data are in an open tier that does not require access approval. To access information that could potentially identify participants, such as germline alleles and the underlying sequencing data, researchers will need to apply to the TCGA data access committee via dbGaP (https://dbgap.ncbi.nlm.nih.gov/aa/wga.cgi?page=login) for access to the TCGA portion of the dataset, and to the ICGC data access compliance office (http://icgc.org/daco) for the ICGC portion of the dataset. In addition, to access somatic single nucleotide variants derived from TCGA donors, researchers will also need to obtain dbGaP authorization. For each mutational signature as extracted by SigProfiler, there is a ‘vignette’ that consists of plots and a short textual description at COSMIC (available at https://cancer.sanger.ac.uk/cosmic/signatures/). Beyond the core sequence data generated by the ICGC and TCGA PCAWG Consortium, other derived datasets were generated by the research reported in this paper. These derived datasets are available at Synapse (https://www.synapse.org/#!Synapse:syn11726601/wiki/513478), and are denoted by accession numbers (synXXXXXXXX). All these datasets are mirrored at https://dcc.icgc.org/releases/PCAWG/mutational_signatures/ with full links, filenames, accession numbers and descriptions as detailed in Supplementary Table 1. These datasets include (1) CSV files comprising all catalogues of observed mutational spectra that were used as input to signature extraction (syn11801889), (2) CSV files and plots of signatures extracted by SigProfiler (syn11738306) and SignatureAnalyzer (syn11738307), (3) CSV files with estimates of the numbers of mutations generated by each signature in individual tumours (syn11804065), (4) estimates of the probability that each signature was responsible for each mutational type (for example, CTG>CAG) in individual tumours (syn11804068) and (5) synthetic test input data plus the results of tests of signature extraction (discovery) on the synthetic test data (syn18497223). All derived datasets are open access, and can be downloaded without registration or logging in.

Code availability

SigProfiler is available both as a MATLAB framework and as a Python package. In both cases, SigProfiler is a fully functional, free and open-source tool distributed under the permissive 2-Clause BSD License. SigProfiler in MATLAB can be downloaded from: https://www.mathworks.com/matlabcentral/fileexchange/38724-sigprofiler. SigProfiler in Python can be downloaded from: https://github.com/AlexandrovLab/SigProfilerExtractor. SignatureAnalyzer code is available at https://github.com/broadinstitute/getzlab-SignatureAnalyzer (github.com). The code used to generate the synthetic data and summarize SignatureAnalyzer and SigProfiler results is open source and freely available as the SynSig package: https://github.com/steverozen/SynSig/tree/v0.2.0 under the GNU General Public License v.3.0. The core computational pipelines used by the PCAWG Consortium for alignment, quality control and variant calling are available to the public at https://dockstore.org/search?search=pcawg under the GNU General Public License v.3.0, which allows for reuse and distribution.

Change history

25 January 2023
A Correction to this paper has been published: https://doi.org/10.1038/s41586-022-05600-5

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Acknowledgements

The results here are based in part on data generated by the TCGA research network (http://cancergenome.nih.gov/) and the ICGC and TCGA PCAWG network. This work was supported by Wellcome grant reference 206194 (M.R.S.), Singapore National Medical Research Council grants NMRC/CIRG/1422/2015 and MOH-000032/MOH-CIRG18may-0004 and the Singapore Ministry of Health via the Duke-NUS Signature Research Programmes (M.N.H., A.W.T.N., Y.W., A.B. and S.G.R.), US National Institute of Health Intramural Research Program Project Z1AES103266 (D.A.G.), the European Research Council Consolidator Grant 682398 (N.L.-B.), US National Cancer Institute U24CA143843 (D.A.W.) and Cancer Research UK Grand Challenge Award C98/A24032 (E.N.B., S.M.A.I., L.B.A. and M.R.S.). G.G and J.K were partially supported by the National Cancer Institute grants U24CA210999 and U24CA143845. G.G. was partially supported by the Paul C. Zamecnick, MD, Chair in Oncology at the Massachusetts General Hospital Cancer Center. N.J.H. and G.G. were partially supported by G.G.’s funds at the Broad Institute and Massachusetts General Hospital. N.J.H. was partially funded by the Molecular Biophysics Training Grant NIH/ NIGMS T32 GM008313 (PI: Venkatesh N. Murthy).We acknowledge the contributions of the many clinical networks across the ICGC and TCGA who provided samples and data to the PCAWG Consortium, and the contributions of the Technical Working Group and the Germline Working Group of the PCAWG Consortium for collation, realignment and harmonized variant calling of the cancer genomes used in this study. We thank the patients and their families for their participation in the individual ICGC and TCGA projects. The members of the PCAWG Consortium are listed in Supplementary Note 1.

Author information

These authors contributed equally: Ludmil B. Alexandrov, Jaegil Kim, Nicholas J. Haradhvala, Mi Ni Huang
These authors jointly supervised this work: Gad Getz, Steven G. Rozen, Michael R. Stratton
A list of members and their affiliations appears at the end of the paper
A list of members and their affiliations appears online

Authors and Affiliations

Department of Cellular and Molecular Medicine, Department of Bioengineering, Moores Cancer Center, University of California, San Diego, CA, USA
Ludmil B. Alexandrov, Erik N. Bergstrom, S. M. Ashiqul Islam, Ludmil B. Alexandrov, Erik N. Bergstrom & S. M. Ashiqul Islam
Broad Institute of MIT and Harvard, Cambridge, MA, USA
Jaegil Kim, Nicholas J. Haradhvala, Gad Getz, Nicholas J. Haradhvala, Jaegil Kim, Michael Lawrence, Paz Polak, Fouad Yousif & Gad Getz
Center for Cancer Research, Massachusetts General Hospital, Boston, MA, USA
Nicholas J. Haradhvala, Gad Getz, Nicholas J. Haradhvala, Paz Polak & Gad Getz
Programme in Cancer & Stem Cell Biology, Duke-NUS Medical School, Singapore, Singapore
Mi Ni Huang, Alvin Wei Tian Ng, Yang Wu, Arnoud Boot, John R. McPherson, Arnoud Boot, Mi Ni Huang, John R. McPherson, Alvin Wei Tian Ng, Steven G. Rozen, Bin Tean Teh, Yang Wu, Willie Yu & Steven G. Rozen
Centre for Computational Biology, Duke-NUS Medical School, Singapore, Singapore
Mi Ni Huang, Alvin Wei Tian Ng, Yang Wu, Arnoud Boot, John R. McPherson, Arnoud Boot, Mi Ni Huang, John R. McPherson, Alvin Wei Tian Ng, Steven G. Rozen, Yang Wu, Willie Yu & Steven G. Rozen
Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA
Kyle R. Covington, David A. Wheeler, Kyle R. Covington & David A. Wheeler
Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, TX, USA
Kyle R. Covington & Kyle R. Covington
Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences (NIEHS), Durham, NC, USA
Dmitry A. Gordenin, Dmitry A. Gordenin & Natalie Saini
Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain
Nuria Lopez-Bigas & Nuria Lopez-Bigas
Research Program on Biomedical Informatics, Universitat Pompeu Fabra, Barcelona, Spain
Nuria Lopez-Bigas, Radhakrishnan Sabarinathan, Nuria Lopez-Bigas & Radhakrishnan Sabarinathan
Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain
Nuria Lopez-Bigas & Nuria Lopez-Bigas
Integrative Bioinformatics Support Group, National Institute of Environmental Health Sciences (NIEHS), Durham, NC, USA
Leszek J. Klimczak & Leszek J. Klimczak
Wellcome Sanger Institute, Hinxton, UK
Sandro Morganella, Iñigo Martincorena, Sandro Morganella, Michael R. Stratton, Ignacio Vázquez-García & Michael R. Stratton
National Centre for Biological Sciences, Tata Institute of Fundamental Research, Bangalore, India
Radhakrishnan Sabarinathan & Radhakrishnan Sabarinathan
Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain
Radhakrishnan Sabarinathan & Radhakrishnan Sabarinathan
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
David A. Wheeler & David A. Wheeler
Department of Computer Science, University of Helsinki, Helsinki, Finland
Ville Mustonen & Ville Mustonen
Organismal and Evolutionary Biology Research Programme, University of Helsinki, Helsinki, Finland
Ville Mustonen & Ville Mustonen
Institute of Biotechnology, University of Helsinki, Helsinki, Finland
Ville Mustonen & Ville Mustonen
Department of Pathology, Massachusetts General Hospital, Boston, MA, USA
Gad Getz & Gad Getz
Harvard Medical School, Boston, MA, USA
Gad Getz, Paz Polak & Gad Getz
SingHealth, Duke-NUS Institute of Precision Medicine, National Heart Centre Singapore, Singapore, Singapore
Steven G. Rozen, Bin Tean Teh & Steven G. Rozen
Department of Medical Biophysics, University of Toronto, Toronto, Ontario, Canada
Paul Boutros
University of California Los Angeles, Los Angeles, CA, USA
Paul Boutros
Computational Biology Program, Ontario Institute for Cancer Research, Toronto, Ontario, Canada
Paul Boutros & Stephenie Prokopec
Department of Pharmacology, University of Toronto, Toronto, Ontario, Canada
Paul Boutros
Department of Biochemistry, Microbiology and Immunology, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada
Kin Chan
RIKEN Center for Integrative Medical Sciences, Yokohama, Japan
Akihiro Fujimoto & Hidewaki Nakagawa
A. A. Kharkevich Institute of Information Transmission Problems, Moscow, Russia
Marat Kazanov
Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia
Marat Kazanov
Skolkovo Institute of Science and Technology, Moscow, Russia
Marat Kazanov
Laboratory for Medical Science Mathematics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan
Michael Lawrence
Massachusetts General Hospital, Boston, MA, USA
Michael Lawrence
School of Molecular Biosciences, Washington State University, Pullman, WA, USA
Steven A. Roberts
Center for Reproductive Biology, Washington State University, Pullman, WA, USA
Steven A. Roberts
Laboratory of Molecular Medicine, Human Genome Center, The Institute of Medical Science, The University of Tokyo, Tokyo, Japan
Tatsuhiro Shibata
Division of Cancer Genomics, National Cancer Center Research Institute, Tokyo, Japan
Tatsuhiro Shibata
The Institute of Medical Science, The University of Tokyo, Tokyo, Japan
Yuichi Shiraishi
Cancer Science Institute of Singapore, National University of Singapore, Singapore, Singapore
Bin Tean Teh
Institute of Molecular and Cell Biology, Singapore, Singapore
Bin Tean Teh
Laboratory of Cancer Epigenome, Division of Medical Science, National Cancer Centre Singapore, Singapore, Singapore
Bin Tean Teh
Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, USA
Ignacio Vázquez-García
Department of Statistics, Columbia University, New York, NY, USA
Ignacio Vázquez-García
Department of Applied Mathematics and Theoretical Physics, Centre for Mathematical Sciences, University of Cambridge, Cambridge, UK
Ignacio Vázquez-García
Applied Tumor Genomics Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland
Lauri A. Aaltonen
Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK
Federico Abascal, David J. Adams, Ludmil B. Alexandrov, Sam Behjati, Shriram G. Bhosle, David T. Bowen, Adam P. Butler, Peter J. Campbell, Peter Clapham, Helen Davies, Kevin J. Dawson, Stefan C. Dentro, Serge Serge, Erik Garrison, Mohammed Ghori, Dominik Glodzik, Jonathan Hinton, David R. Jones, Young Seok Ju, Stian Knappskog, Barbara Kremeyer, Henry Lee-Six, Daniel A. Leongamornlert, Yilong Li, Sancha Martin, Iñigo Martincorena, Ultan McDermott, Andrew Menzies, Thomas J. Mitchell, Sandro Morganella, Jyoti Nangalia, Jonathan Nicholson, Serena Nik-Zainal, Sarah O’Meara, Elli Papaemmanuil, Keiran M. Raine, Manasa Ramakrishna, Kamna Ramakrishnan, Nicola D. Roberts, Rebecca Shepherd, Lucy Stebbings, Michael R. Stratton, Maxime Tarabichi, Jon W. Teague, Ignacio Vázquez-García, David C. Wedge, Lucy Yates, Jorge Zamora & Xueqing Zou
Memorial Sloan Kettering Cancer Center, New York, NY, USA
Adam Abeshouse, Hikmat Al-Ahmadie, Gunes Gundem, Zachary Heins, Jason Huse, Douglas A. Levine, Eric Minwei Liu & Angelica Ochoa
Genome Science Division, Research Center for Advanced Science and Technology, University of Tokyo, Tokyo, Japan
Hiroyuki Aburatani, Genta Nagae, Akihiro Suzuki, Kenji Tatsuno & Shogo Yamamoto
Department of Surgery, University of Chicago, Chicago, IL, USA
Nishant Agrawal
Department of Surgery, Division of Hepatobiliary and Pancreatic Surgery, School of Medicine, Keimyung University Dongsan Medical Center, Daegu, South Korea
Keun Soo Ahn & Koo Jeong Kang
Department of Oncology, Gil Medical Center, Gachon University, Incheon, South Korea
Sung-Min Ahn
Hiroshima University, Hiroshima, Japan
Hiroshi Aikata, Koji Arihiro, Kazuaki Chayama, Yoshiiku Kawakami & Hideki Ohdan
Department of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Rehan Akbani, Shaolong Cao, Yiwen Chen, Zechen Chong, Yu Fan, Jun Li, Han Liang, Wenyi Wang, Yumeng Wang & Yuan Yuan
University of Texas MD Anderson Cancer Center, Houston, TX, USA
Kadir C. Akdemir & Ken Chen
King Faisal Specialist Hospital and Research Centre, Al Maather, Riyadh, Saudi Arabia
Sultan T. Al-Sedairy
Bioinformatics Unit, Spanish National Cancer Research Centre (CNIO), Madrid, Spain
Fatima Al-Shahrour & Elena Piñeiro-Yáñez
Bioinformatics Core Facility, University Medical Center Hamburg, Hamburg, Germany
Malik Alawi
Heinrich Pette Institute, Leibniz Institute for Experimental Virology, Hamburg, Germany
Malik Alawi & Adam Grundhoff
Ontario Tumour Bank, Ontario Institute for Cancer Research, Toronto, ON, Canada
Monique Albert & John Bartlett
Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Kenneth Aldape, Russell R. Broaddus, Bogdan Czerniak, Adel El-Naggar, Savitri Krishnamurthy, Alexander J. Lazar & Xiaoping Su
Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA
Kenneth Aldape
Department of Cellular and Molecular Medicine and Department of Bioengineering, University of California San Diego, La Jolla, CA, USA
Ludmil B. Alexandrov & Erik N. Bergstrom
UC San Diego Moores Cancer Center, San Diego, CA, USA
Ludmil B. Alexandrov, Erik N. Bergstrom & Olivier Harismendy
Canada’s Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, BC, Canada
Adrian Ally, Miruna Balasundaram, Reanne Bowlby, Denise Brooks, Rebecca Carlsen, Eric Chuah, Noreen Dhalla, Robert A. Holt, Steven J. M. Jones, Katayoon Kasaian, Darlene Lee, Haiyan Irene Li, Yussanne Ma, Marco A. Marra, Michael Mayo, Richard A. Moore, Andrew J. Mungall, Karen Mungall, A. Gordon Robertson, Sara Sadeghi, Jacqueline E. Schein, Payal Sipahimalani, Angela Tam, Nina Thiessen & Tina Wong
Sir Peter MacCallum Department of Oncology, Peter MacCallum Cancer Centre, University of Melbourne, Melbourne, VIC, Australia
Kathryn Alsop, David D. L. Bowtell, Elizabeth L. Christie, Dariush Etemadmoghadam, Sian Fereday, Dale W. Garsed, Linda Mileshkin, Chris Mitchell, Mark Shackleton, Heather Thorne & Nadia Traficante
Centre for Research in Molecular Medicine and Chronic Diseases (CiMUS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain
Eva G. Alvarez, Alicia L. Bruzos, Bernardo Rodriguez-Martin, Javier Temes, Jose M. C. Tubio & Jorge Zamora
Department of Zoology, Genetics and Physical Anthropology, (CiMUS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain
Eva G. Alvarez, Alicia L. Bruzos, Bernardo Rodriguez-Martin, Javier Temes, Jose M. C. Tubio & Jorge Zamora
The Biomedical Research Centre (CINBIO), Universidade de Vigo, Vigo, Spain
Eva G. Alvarez, Alicia L. Bruzos, Bernardo Rodriguez-Martin, Marta Tojo, Jose M. C. Tubio & Jorge Zamora
Royal National Orthopaedic Hospital - Bolsover, London, UK
Fernanda Amary
Department of Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Samirkumar B. Amin, P. Andrew Futreal & Alexander J. Lazar
Quantitative and Computational Biosciences Graduate Program, Baylor College of Medicine, Houston, TX, USA
Samirkumar B. Amin, Han Liang & Yumeng Wang
The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA
Samirkumar B. Amin, Joshy George & Lucas Lochovsky
Genome Informatics Program, Ontario Institute for Cancer Research, Toronto, ON, Canada
Brice Aminou, Niall J. Byrne, Aurélien Chateigner, Nodirjon Fayzullaev, Vincent Ferretti, George L. Mihaiescu, Hardeep K. Nahal-Bose, Brian D. O’Connor, B. F. Francis Ouellette, Marc D. Perry, Kevin Thai, Qian Xiang, Christina K. Yung & Junjun Zhang
Institute of Human Genetics, Christian-Albrechts-University, Kiel, Germany
Ole Ammerpohl, Andrea Haake, Cristina López, Julia Richter & Rabea Wagener
Institute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm, Germany
Ole Ammerpohl, Sietse Aukema, Cristina López, Reiner Siebert & Rabea Wagener
Queensland Centre for Medical Genomics, Institute for Molecular Bioscience, University of Queensland, St. Lucia, Brisbane, QLD, Australia
Matthew J. Anderson, Timothy J. C. Bruxner, Angelika N. Christ, J. Lynn Fink, Ivon Harliwong, Karin S. Kassahn, David K. Miller, Alan J. Robertson & Darrin F. Taylor
Salford Royal NHS Foundation Trust, Salford, UK
Yeng Ang, Hsiao-Wei Chen, Ritika Kundra & Francisco Sanchez-Vega
Department of Surgery, Pancreas Institute, University and Hospital Trust of Verona, Verona, Italy
Davide Antonello, Claudio Bassi, Narong Khuntikeo, Luca Landoni, Giuseppe Malleo, Giovanni Marchegiani, Neil D. Merrett, Marco Miotto, Salvatore Paiella, Antonio Pea, Paolo Pederzoli, Roberto Salvia, Jaswinder S. Samra, Elisabetta Sereni & Samuel Singer
Molecular and Medical Genetics, OHSU Knight Cancer Institute, Oregon Health and Science University, Portland, OR, USA
Pavana Anur, Myron Peto & Paul T. Spellman
Department of Molecular Oncology, BC Cancer Research Centre, Vancouver, BC, Canada
Samuel Aparicio
The McDonnell Genome Institute at Washington University, St. Louis, MO, USA
Elizabeth L. Appelbaum, Matthew H. Bailey, Matthew G. Cordes, Li Ding, Catrina C. Fronick, Lucinda A. Fulton, Robert S. Fulton, Kuan-lin Huang, Reyka Jayasinghe, Elaine R. Mardis, R. Jay Mashl, Michael D. McLellan, Christopher A. Miller, Heather K. Schmidt, Jiayin Wang, Michael C. Wendl, Richard K. Wilson & Tina Wong
University College London, London, UK
Elizabeth L. Appelbaum, Jonathan D. Kay, Helena Kilpinen, Laurence B. Lovat, Hayley J. Luxton & Hayley C. Whitaker
Division of Cancer Genomics, National Cancer Center Research Institute, National Cancer Center, Tokyo, Japan
Yasuhito Arai, Natsuko Hama, Fumie Hosoda, Hiromi Nakamura, Tatsuhiro Shibata, Yasushi Totoki & Shinichi Yachida
DLR Project Management Agency, Bonn, Germany
Axel Aretz
Tokyo Women’s Medical University, Tokyo, Japan
Shun-ichi Ariizumi & Masakazu Yamamoto
Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, NY, USA
Joshua Armenia, Hsiao-Wei Chen, Jianjiong Gao, Ritika Kundra, Francisco Sanchez-Vega, Nikolaus Schultz & Hongxin Zhang
Los Alamos National Laboratory, Los Alamos, NM, USA
Laurent Arnould
Department of Pathology, University Health Network, Toronto General Hospital, Toronto, ON, Canada
Sylvia Asa, Michael H. A. Roehrl & Theodorus Van der Kwast
Nottingham University Hospitals NHS Trust, Nottingham, UK
Sylvia Asa, Simon L. Parsons & Ming Tsao
Epigenomics and Cancer Risk Factors, German Cancer Research Center (DKFZ), Heidelberg, Germany
Yassen Assenov
Computational Biology Program, Ontario Institute for Cancer Research, Toronto, ON, Canada
Gurnit Atwal, Philip Awadalla, Jonathan Barenboim, Vinayak Bhandari, Ivan Borozan, Paul C. Boutros, Lewis Jonathan Dursi, Shadrielle M. G. Espiritu, Natalie S. Fox, Michael Fraser, Syed Haider, Vincent Huang, Keren Isaev, Wei Jiao, Christopher M. Lalansingh, Emilie Lalonde, Fabien C. Lamaze, Constance H. Li, Julie Livingstone, Christine P’ng, Marta Paczkowska, Stephenie D. Prokopec, Jüri Reimand, Veronica Y. Sabelnykova, Adriana Salcedo, Yu-Jia Shiah, Solomon I. Shorser, Shimin Shuai, Jared T. Simpson, Lincoln D. Stein, Ren X. Sun, Lina Wadi, Gavin W. Wilson, Adam J. Wright, Takafumi N. Yamaguchi, Fouad Yousif & Denis Yuen
Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada
Gurnit Atwal, Philip Awadalla, Gary D. Bader, Shimin Shuai & Lincoln D. Stein
Vector Institute, Toronto, ON, Canada
Gurnit Atwal, Quaid D. Morris, Yulia Rubanova & Jeffrey A. Wintersinger
Hematopathology Section, Institute of Pathology, Christian-Albrechts-University, Kiel, Germany
Sietse Aukema, Wolfram Klapper, Julia Richter & Monika Szczepanowski
Department of Pathology and Laboratory Medicine, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA
J. Todd Auman & Charles M. Perou
Department of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital, The Norwegian Radium Hospital, Oslo, Norway
Miriam R. R. Aure, Anne-Lise Børresen-Dale & Anita Langerød
Pathology, Hospital Clinic, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, Barcelona, Spain
Marta Aymerich
Department of Veterinary Medicine, Transmissible Cancer Group, University of Cambridge, Cambridge, UK
Adrian Baez-Ortega
Alvin J. Siteman Cancer Center, Washington University School of Medicine, St. Louis, MO, USA
Matthew H. Bailey, Li Ding, Robert S. Fulton, Ramaswamy Govindan & Michael D. McLellan
Wolfson Wohl Cancer Research Centre, Institute of Cancer Sciences, University of Glasgow, Glasgow, UK
Peter J. Bailey, Andrew V. Biankin, David K. Chang, Susanna L. Cooke, Fraser R. Duthie, Janet S. Graham, Nigel B. Jamieson, Elizabeth A. Musgrove & Derek W. Wright
Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA
Saianand Balu, Tom Bodenheimer, D. Neil Hayes, Austin J. Hepperla, Katherine A. Hoadley, Alan P. Hoyle, Stuart R. Jefferys, Shaowu Meng, Lisle E. Mose, Grant Sanders, Yan Shi, Janae V. Simons & Matthew G. Soloway
Broad Institute of MIT and Harvard, Cambridge, MA, USA
Pratiti Bandopadhayay, Rameen Beroukhim, Angela N. Brooks, Susan Bullman, John Busanovich, Andrew D. Cherniack, Juok Cho, Carrie Cibulskis, Kristian Cibulskis, David Craft, Timothy Defreitas, Andrew J. Dunford, Scott Frazer, Stacey B. Gabriel, Nils Gehlenborg, Gad Getz, Manaswi Gupta, Gavin Ha, Nicholas J. Haradhvala, David I. Heiman, Julian M. Hess, Manolis Kellis, Jaegil Kim, Kiran Kumar, Kirsten Kübler, Eric Lander, Michael S. Lawrence, Ignaty Leshchiner, Pei Lin, Ziao Lin, Dimitri Livitz, Yosef E. Maruvka, Samuel R. Meier, Matthew Meyerson, Michael S. Noble, Chandra Sekhar Pedamallu, Paz Polak, Esther Rheinbay, Daniel Rosebrock, Mara Rosenberg, Gordon Saksena, Richard Sallari, Steven E. Schumacher, Ayellet V. Segre, Ofer Shapira, Juliann Shih, Nasa Sinnott-Armstrong, Oliver Spiro, Chip Stewart, Amaro Taylor-Weiner, Grace Tiao, Douglas Voet, Jeremiah A. Wala, Cheng-Zhong Zhang & Hailei Zhang
Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, Boston, MA, USA
Pratiti Bandopadhayay
Department of Pediatrics, Harvard Medical School, Boston, MA, USA
Pratiti Bandopadhayay
Leeds Institute of Medical Research @ St. James’s, University of Leeds, St. James’s University Hospital, Leeds, UK
Rosamonde E. Banks & Naveen Vasudev
Department of Pathology and Diagnostics, University and Hospital Trust of Verona, Verona, Italy
Stefano Barbi, Vincenzo Corbo & Michele Simbolo
Department of Surgery, Princess Alexandra Hospital, Brisbane, QLD, Australia
Andrew P. Barbour
Surgical Oncology Group, Diamantina Institute, University of Queensland, Brisbane, QLD, Australia
Andrew P. Barbour
Department of Population and Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, USA
Jill Barnholtz-Sloan
Research Health Analytics and Informatics, University Hospitals Cleveland Medical Center, Cleveland, OH, USA
Jill Barnholtz-Sloan
Gloucester Royal Hospital, Gloucester, UK
Hugh Barr
European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Cambridge, UK
Elisabet Barrera, Wojciech Bazant, Ewan Birney, Rich Boyce, Alvis Brazma, Andy Cafferkey, Claudia Calabrese, Paul Flicek, Nuno A. Fonseca, Anja Füllgrabe, Moritz Gerstung, Santiago Gonzalez, Liliana Greger, Maria Keays, Jan O. Korbel, Alfonso Muñoz, Steven J. Newhouse, David Ocana, Irene Papatheodorou, Robert Petryszak, Roland F. Schwarz, Charles Short, Oliver Stegle & Lara Urban
Diagnostic Development, Ontario Institute for Cancer Research, Toronto, ON, Canada
John Bartlett & Ilinca Lungu
Barcelona Supercomputing Center (BSC), Barcelona, Spain
Javier Bartolome, Mattia Bosio, Ana Dueso-Barroso, J. Lynn Fink, Josep L. L. Gelpi, Ana Milovanovic, Montserrat Puiggròs, Javier Bartolomé Rodriguez, Romina Royo, David Torrents, Alfonso Valencia, Miguel Vazquez, David Vicente & Izar Villasante
Arnie Charbonneau Cancer Institute, University of Calgary, Calgary, AB, Canada
Oliver F. Bathe
Departments of Surgery and Oncology, University of Calgary, Calgary, AB, Canada
Oliver F. Bathe
Department of Pathology, Oslo University Hospital, The Norwegian Radium Hospital, Oslo, Norway
Daniel Baumhoer & Bodil Bjerkehagen
PanCuRx Translational Research Initiative, Ontario Institute for Cancer Research, Toronto, ON, Canada
Prashant Bavi, Michelle Chan-Seng-Yue, Sean Cleary, Robert E. Denroche, Steven Gallinger, Robert C. Grant, Gun Ho Jang, Sangeetha Kalimuthu, Ilinca Lungu, John D. McPherson, Faiyaz Notta, Michael H. A. Roehrl, Gavin W. Wilson & Julie M. Wilson
Department of Oncology, Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins University School of Medicine, Baltimore, MD, USA
Stephen B. Baylin, Nilanjan Chatterjee, Leslie Cope, Ludmila Danilova & Ralph H. Hruban
University Hospital Southampton NHS Foundation Trust, Southampton, UK
Stephen B. Baylin & Tim Dudderidge
Royal Stoke University Hospital, Stoke-on-Trent, UK
Duncan Beardsmore & Christopher Umbricht
Genome Sequence Informatics, Ontario Institute for Cancer Research, Toronto, ON, Canada
Timothy A. Beck, Bob Gibson, Lawrence E. Heisler, Xuemei Luo & Morgan L. Taschuk
Human Longevity Inc, San Diego, CA, USA
Timothy A. Beck
Olivia Newton-John Cancer Research Institute, La Trobe University, Heidelberg, VIC, Australia
Andreas Behren & Jonathan Cebon
Computer Network Information Center, Chinese Academy of Sciences, Beijing, China
Beifang Niu
Genome Canada, Ottawa, ON, Canada
Cindy Bell
CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain
Sergi Beltran, Ivo G. Gut, Marta Gut, Simon C. Heath, Tomas Marques-Bonet, Arcadi Navarro, Miranda D. Stobbe, Jean-Rémi Trotta & Justin P. Whalley
Universitat Pompeu Fabra (UPF), Barcelona, Spain
Sergi Beltran, Mattia Bosio, German M. Demidov, Oliver Drechsel, Ivo G. Gut, Marta Gut, Simon C. Heath, Francesc Muyas, Stephan Ossowski, Aparna Prasad, Raquel Rabionet, Miranda D. Stobbe & Hana Susak
Buck Institute for Research on Aging, Novato, CA, USA
Christopher Benz & Christina Yau
Duke University Medical Center, Durham, NC, USA
Andrew Berchuck
Department of Human Genetics, Hannover Medical School, Hannover, Germany
Anke K. Bergmann
Center for Bioinformatics and Functional Genomics, Cedars-Sinai Medical Center, Los Angeles, CA, USA
Benjamin P. Berman & Huy Q. Dinh
Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA, USA
Benjamin P. Berman
The Hebrew University Faculty of Medicine, Jerusalem, Israel
Benjamin P. Berman
Barts Cancer Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK
Daniel M. Berney & Yong-Jie Lu
Department of Computer Science, Bioinformatics Group, University of Leipzig, Leipzig, Germany
Stephan H. Bernhart, Hans Binder, Steve Hoffmann & Peter F. Stadler
Interdisciplinary Center for Bioinformatics, University of Leipzig, Leipzig, Germany
Stephan H. Bernhart, Hans Binder, Steve Hoffmann, Helene Kretzmer & Peter F. Stadler
Transcriptome Bioinformatics, LIFE Research Center for Civilization Diseases, University of Leipzig, Leipzig, Germany
Stephan H. Bernhart, Steve Hoffmann, Helene Kretzmer & Peter F. Stadler
Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA
Rameen Beroukhim, Angela N. Brooks, Susan Bullman, Andrew D. Cherniack, Levi Garraway, Matthew Meyerson, Chandra Sekhar Pedamallu, Steven E. Schumacher, Juliann Shih & Jeremiah A. Wala
Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA, USA
Rameen Beroukhim, Aquila Fatima, Andrea L. Richardson, Steven E. Schumacher, Ofer Shapira, Andrew Tutt & Jeremiah A. Wala
Harvard Medical School, Boston, MA, USA
Rameen Beroukhim, Gad Getz, Kirsten Kübler, Matthew Meyerson, Chandra Sekhar Pedamallu, Paz Polak, Esther Rheinbay & Jeremiah A. Wala
USC Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, USA
Mario Berrios, Moiz S. Bootwalla, Andrea Holbrook, Phillip H. Lai, Dennis T. Maglinte, David J. Van Den Berg & Daniel J. Weisenberger
Department of Diagnostics and Public Health, University and Hospital Trust of Verona, Verona, Italy
Samantha Bersani, Ivana Cataldo, Claudio Luchini & Maria Scardoni
Department of Mathematics, Aarhus University, Aarhus, Denmark
Johanna Bertl & Asger Hobolth
Department of Molecular Medicine (MOMA), Aarhus University Hospital, Aarhus N, Denmark
Johanna Bertl, Henrik Hornshøj, Malene Juul, Randi Istrup Juul, Tobias Madsen, Morten Muhlig Nielsen & Jakob Skou Pedersen
Instituto Carlos Slim de la Salud, Mexico City, Mexico
Miguel Betancourt
Department of Medical Biophysics, University of Toronto, Toronto, ON, Canada
Vinayak Bhandari, Paul C. Boutros, Robert G. Bristow, Keren Isaev, Constance H. Li, Jüri Reimand, Michael H. A. Roehrl & Bradly G. Wouters
Cancer Division, Garvan Institute of Medical Research, Kinghorn Cancer Centre, University of New South Wales (UNSW Sydney), Sydney, NSW, Australia
Andrew V. Biankin, David K. Chang, Lorraine A. Chantrill, Angela Chou, Anthony J. Gill, Amber L. Johns, James G. Kench, David K. Miller, Adnan M. Nagrial, Marina Pajic, Mark Pinese, Ilse Rooman, Christopher J. Scarlett, Christopher W. Toon & Jianmin Wu
South Western Sydney Clinical School, Faculty of Medicine, University of New South Wales (UNSW Sydney), Liverpool, NSW, Australia
Andrew V. Biankin
West of Scotland Pancreatic Unit, Glasgow Royal Infirmary, Glasgow, UK
Andrew V. Biankin & Nigel B. Jamieson
Center for Digital Health, Berlin Institute of Health and Charitè - Universitätsmedizin Berlin, Berlin, Germany
Matthias Bieg
Heidelberg Center for Personalized Oncology (DKFZ-HIPO), German Cancer Research Center (DKFZ), Heidelberg, Germany
Matthias Bieg, Ivo Buchhalter, Barbara Hutter & Nagarajan Paramasivam
The Preston Robert Tisch Brain Tumor Center, Duke University Medical Center, Durham, NC, USA
Darell Bigner
Massachusetts General Hospital, Boston, MA, USA
Michael Birrer, Vikram Deshpande, William C. Faquin, Nicholas J. Haradhvala, Kirsten Kübler, Michael S. Lawrence, David N. Louis, Yosef E. Maruvka, G. Petur Nielsen, Esther Rheinbay, Mara Rosenberg, Dennis C. Sgroi & Chin-Lee Wu
National Institute of Biomedical Genomics, Kalyani, West Bengal, India
Nidhan K. Biswas, Arindam Maitra & Partha P. Majumder
Institute of Clinical Medicine and Institute of Oral Biology, University of Oslo, Oslo, Norway
Bodil Bjerkehagen
University of North Carolina at Chapel Hill, Chapel Hill, NC, USA
Lori Boice, Mei Huang, Sonia Puig & Leigh B. Thorne
ARC-Net Centre for Applied Research on Cancer, University and Hospital Trust of Verona, Verona, Italy
Giada Bonizzato, Cinzia Cantù, Ivana Cataldo, Vincenzo Corbo, Sonia Grimaldi, Rita T. Lawlor, Andrea Mafficini, Borislav C. Rusev, Aldo Scarpa, Katarzyna O. Sikora, Nicola Sperandio, Alain Viari & Caterina Vicentini
The Institute of Cancer Research, London, UK
Johann S. De Bono, Niedzica Camacho, Colin S. Cooper, Sandra E. Edwards, Rosalind A. Eeles, Zsofia Kote-Jarai, Daniel A. Leongamornlert, Lucy Matthews & Sue Merson
Centre for Computational Biology, Duke-NUS Medical School, Singapore, Singapore
Arnoud Boot, Ioana Cutcutache, Mi Ni Huang, John R. McPherson, Steven G. Rozen & Yang Wu
Programme in Cancer and Stem Cell Biology, Duke-NUS Medical School, Singapore, Singapore
Arnoud Boot, Ioana Cutcutache, Mi Ni Huang, John R. McPherson, Steven G. Rozen, Patrick Tan, Bin Tean Teh & Yang Wu
Division of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden
Ake Borg, Markus Ringnér & Johan Staaf
Department of Pediatric Oncology, Hematology and Clinical Immunology, Heinrich-Heine-University, Düsseldorf, Germany
Arndt Borkhardt & Jessica I. Hoell
Laboratory for Medical Science Mathematics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan
Keith A. Boroevich, Todd A. Johnson, Michael S. Lawrence & Tatsuhiko Tsunoda
RIKEN Center for Integrative Medical Sciences, Yokohama, Japan
Keith A. Boroevich, Akihiro Fujimoto, Masashi Fujita, Mayuko Furuta, Kazuhiro Maejima, Hidewaki Nakagawa, Kaoru Nakano & Aya Sasaki-Oku
Department of Internal Medicine/Hematology, Friedrich-Ebert-Hospital, Neumünster, Germany
Christoph Borst & Siegfried Haas
Departments of Dermatology and Pathology, Yale University, New Haven, CT, USA
Marcus Bosenberg
Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain
Mattia Bosio, German M. Demidov, Oliver Drechsel, Georgia Escaramis, Xavier Estivill, Aliaksei Z. Holik, Francesc Muyas, Stephan Ossowski, Raquel Rabionet & Hana Susak
Radcliffe Department of Medicine, University of Oxford, Oxford, UK
Jacqueline Boultwood
Canadian Center for Computational Genomics, McGill University, Montreal, QC, Canada
Guillaume Bourque
Department of Human Genetics, McGill University, Montreal, QC, Canada
Guillaume Bourque, Mark Lathrop & Yasser Riazalhosseini
Department of Human Genetics, University of California Los Angeles, Los Angeles, CA, USA
Paul C. Boutros
Department of Pharmacology, University of Toronto, Toronto, ON, Canada
Paul C. Boutros
Faculty of Medicine and Health Technology, Tampere University and Tays Cancer Center, Tampere University Hospital, Tampere, Finland
G. Steven Bova & Tapio Visakorpi
Haematology, Leeds Teaching Hospitals NHS Trust, Leeds, UK
David T. Bowen
Translational Research and Innovation, Centre Léon Bérard, Lyon, France
Sandrine Boyault
Fox Chase Cancer Center, Philadelphia, PA, USA
Jeffrey Boyd & Elaine R. Mardis
International Agency for Research on Cancer, World Health Organization, Lyon, France
Paul Brennan & Ghislaine Scelo
Earlham Institute, Norwich, UK
Daniel S. Brewer & Colin S. Cooper
Norwich Medical School, University of East Anglia, Norwich, UK
Daniel S. Brewer & Colin S. Cooper
Department of Molecular Biology, Faculty of Science, Radboud Institute for Molecular Life Sciences, Radboud University, Nijmegen, HB, The Netherlands
Arie B. Brinkman
CRUK Manchester Institute and Centre, Manchester, UK
Robert G. Bristow
Department of Radiation Oncology, University of Toronto, Toronto, ON, Canada
Robert G. Bristow
Division of Cancer Sciences, Manchester Cancer Research Centre, University of Manchester, Manchester, UK
Robert G. Bristow
Radiation Medicine Program, Princess Margaret Cancer Centre, Toronto, ON, Canada
Robert G. Bristow & Fei-Fei Fei Liu
Department of Pathology, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USA
Jane E. Brock & Sabina Signoretti
Department of Surgery, Division of Thoracic Surgery, The Johns Hopkins University School of Medicine, Baltimore, MD, USA
Malcolm Brock
Division of Molecular Pathology, The Netherlands Cancer Institute, Oncode Institute, Amsterdam, CX, The Netherlands
Annegien Broeks & Jos Jonkers
Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA, USA
Angela N. Brooks, David Haan, Maximillian G. Marin, Thomas J. Matthew, Yulia Newton, Cameron M. Soulette & Joshua M. Stuart
UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA
Angela N. Brooks, Brian Craft, Mary J. Goldman, David Haussler, Joshua M. Stuart & Jingchun Zhu
Division of Applied Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany
Benedikt Brors, Lars Feuerbach, Chen Hong, Charles David Imbusch & Lina Sieverling
German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany
Benedikt Brors, Barbara Hutter, Peter Lichter, Dirk Schadendorf & Holger Sültmann
National Center for Tumor Diseases (NCT) Heidelberg, Heidelberg, Germany
Benedikt Brors, Barbara Hutter, Holger Sültmann & Thorsten Zenz
Center for Biological Sequence Analysis, Department of Bio and Health Informatics, Technical University of Denmark, Lyngby, Denmark
Søren Brunak
Novo Nordisk Foundation Center for Protein Research, University of Copenhagen, Copenhagen, Denmark
Søren Brunak
Institute for Molecular Bioscience, University of Queensland, St. Lucia, Brisbane, QLD, Australia
Timothy J. C. Bruxner, Oliver Holmes, Stephen H. Kazakoff, Conrad R. Leonard, Felicity Newell, Katia Nones, Ann-Marie Patch, John V. Pearson, Michael C. Quinn, Nick M. Waddell, Nicola Waddell, Scott Wood & Qinying Xu
Biomedical Engineering, Oregon Health and Science University, Portland, OR, USA
Alex Buchanan & Kyle Ellrott
Division of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany
Ivo Buchhalter, Calvin Wing Yiu Chan, Roland Eils, Michael C. Heinold, Carl Herrmann, Natalie Jäger, Rolf Kabbe, Jules N. A. Kerssemakers, Kortine Kleinheinz, Nagarajan Paramasivam, Manuel Prinz, Matthias Schlesner & Johannes Werner
Institute of Pharmacy and Molecular Biotechnology and BioQuant, Heidelberg University, Heidelberg, Germany
Ivo Buchhalter, Roland Eils, Michael C. Heinold, Carl Herrmann, Daniel Hübschmann, Kortine Kleinheinz & Umut H. Toprak
Federal Ministry of Education and Research, Berlin, Germany
Christiane Buchholz
Melanoma Institute Australia, University of Sydney, Sydney, NSW, Australia
Hazel Burke, Ricardo De Paoli-Iseppi, Nicholas K. Hayward, Peter Hersey, Valerie Jakrot, Hojabr Kakavand, Georgina V. Long, Graham J. Mann, Robyn P. M. Saw, Richard A. Scolyer, Ping Shang, Andrew J. Spillane, Jonathan R. Stretch, John F. F. Thompson & James S. Wilmott
Pediatric Hematology and Oncology, University Hospital Muenster, Muenster, Germany
Birgit Burkhardt
Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Kathleen H. Burns & Christopher Umbricht
McKusick-Nathans Institute of Genetic Medicine, Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins University School of Medicine, Baltimore, MD, USA
Kathleen H. Burns
Foundation Medicine, Inc, Cambridge, MA, USA
John Busanovich
Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, USA
Carlos D. Bustamante & Francisco M. De La Vega
Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA
Carlos D. Bustamante, Francisco M. De La Vega, Suyash S. Shringarpure, Nasa Sinnott-Armstrong & Mark H. Wright
Bakar Computational Health Sciences Institute and Department of Pediatrics, University of California, San Francisco, CA, USA
Atul J. Butte & Jieming Chen
Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway
Anne-Lise Børresen-Dale
National Cancer Institute, National Institutes of Health, Bethesda, MD, USA
Samantha J. Caesar-Johnson, John A. Demchok, Ina Felau, Roy Tarnuzzer, Zhining Wang, Liming Yang, Jean C. Zenklusen & Jiashan Zhang
Royal Marsden NHS Foundation Trust, London and Sutton, UK
Declan Cahill, Nening M. Dennis, Tim Dudderidge, Rosalind A. Eeles, Cyril Fisher, Steven Hazell, Vincent Khoo, Pardeep Kumar, Naomi Livni, Erik Mayer, David Nicol, Christopher Ogden, Edward W. Rowe, Sarah Thomas, Alan Thompson & Nicholas van As
Genome Biology Unit, European Molecular Biology Laboratory (EMBL), Heidelberg, Germany
Claudia Calabrese, Serap Erkek, Moritz Gerstung, Santiago Gonzalez, Nina Habermann, Wolfgang Huber, Lara Jerman, Jan O. Korbel, Esa Pitkänen, Benjamin Raeder, Tobias Rausch, Vasilisa A. Rudneva, Oliver Stegle, Stephanie Sungalee, Lara Urban, Sebastian M. Waszak, Joachim Weischenfeldt & Sergei Yakneen
Department of Oncology, University of Cambridge, Cambridge, UK
Carlos Caldas & Suet-Feung Chin
Li Ka Shing Centre, Cancer Research UK Cambridge Institute, University of Cambridge, Cambridge, UK
Carlos Caldas, Suet-Feung Chin, Ruben M. Drews, Paul A. Edwards, Matthew Eldridge, Steve Hawkins, Andy G. Lynch, Geoff Macintyre, Florian Markowetz, Charlie E. Massie, David E. Neal, Simon Tavaré & Ke Yuan
Institut Gustave Roussy, Villejuif, France
Fabien Calvo
Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK
Peter J. Campbell, Vincent J. Gnanapragasam, William Howat, Thomas J. Mitchell, David E. Neal, Nimish C. Shah & Anne Y. Warren
Department of Haematology, University of Cambridge, Cambridge, UK
Peter J. Campbell
Anatomia Patológica, Hospital Clinic, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, Barcelona, Spain
Elias Campo
Spanish Ministry of Science and Innovation, Madrid, Spain
Elias Campo
University of Michigan Comprehensive Cancer Center, Ann Arbor, MI, USA
Thomas E. Carey
Department for BioMedical Research, University of Bern, Bern, Switzerland
Joana Carlevaro-Fita
Department of Medical Oncology, Inselspital, University Hospital and University of Bern, Bern, Switzerland
Joana Carlevaro-Fita, Rory Johnson & Andrés Lanzós
Graduate School for Cellular and Biomedical Sciences, University of Bern, Bern, Switzerland
Joana Carlevaro-Fita & Andrés Lanzós
University of Pavia, Pavia, Italy
Mario Cazzola & Luca Malcovati
University of Alabama at Birmingham, Birmingham, AL, USA
Robert Cerfolio
UHN Program in BioSpecimen Sciences, Toronto General Hospital, Toronto, ON, Canada
Dianne E. Chadwick, Sheng-Ben Liang, Michael H. A. Roehrl & Sagedeh Shahabi
Department of Urology, Icahn School of Medicine at Mount Sinai, New York, NY, USA
Dimple Chakravarty
Centre for Law and Genetics, University of Tasmania, Sandy Bay Campus, Hobart, TAS, Australia
Don Chalmers
Faculty of Biosciences, Heidelberg University, Heidelberg, Germany
Calvin Wing Yiu Chan, Chen Hong & Lina Sieverling
Department of Biochemistry, Microbiology and Immunology, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada
Kin Chan
Division of Anatomic Pathology, Mayo Clinic, Rochester, MN, USA
Vishal S. Chandan
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA
Stephen J. Chanock, Xing Hua, Lisa Mirabello, Lei Song & Bin Zhu
Illawarra Shoalhaven Local Health District L3 Illawarra Cancer Care Centre, Wollongong Hospital, Wollongong, NSW, Australia
Lorraine A. Chantrill
BioForA, French National Institute for Agriculture, Food, and Environment (INRAE), ONF, Orléans, France
Aurélien Chateigner
Department of Biostatistics, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA
Nilanjan Chatterjee
University of California San Diego, San Diego, CA, USA
Zhaohong Chen, Michelle T. Dow, Claudiu Farcas, S. M. Ashiqul Islam, Antonios Koures, Lucila Ohno-Machado, Christos Sotiriou & Ashley Williams
Division of Experimental Pathology, Mayo Clinic, Rochester, MN, USA
Jeremy Chien
Centre for Cancer Research, The Westmead Institute for Medical Research, University of Sydney, Sydney, NSW, Australia
Yoke-Eng Chiew, Angela Chou, Jillian A. Hung, Catherine J. Kennedy, Graham J. Mann, Gulietta M. Pupo, Sarah-Jane Schramm, Varsha Tembe & Anna deFazio
Department of Gynaecological Oncology, Westmead Hospital, Sydney, NSW, Australia
Yoke-Eng Chiew, Jillian A. Hung, Catherine J. Kennedy & Anna deFazio
PDXen Biosystems Inc, Seoul, South Korea
Sunghoon Cho
Korea Advanced Institute of Science and Technology, Daejeon, South Korea
Jung Kyoon Choi, Young Seok Ju & Christopher J. Yoon
Electronics and Telecommunications Research Institute, Daejeon, South Korea
Wan Choi, Seung-Hyup Jeon, Hyunghwan Kim & Youngchoon Woo
Institut National du Cancer (INCA), Boulogne-Billancourt, France
Christine Chomienne & Iris Pauporté
Department of Genetics, Informatics Institute, University of Alabama at Birmingham, Birmingham, AL, USA
Zechen Chong
Division of Medical Oncology, National Cancer Centre, Singapore, Singapore
Su Pin Choo
Medical Oncology, University and Hospital Trust of Verona, Verona, Italy
Sara Cingarlini & Michele Milella
Department of Pediatrics, University Hospital Schleswig-Holstein, Kiel, Germany
Alexander Claviez
Hepatobiliary/Pancreatic Surgical Oncology Program, University Health Network, Toronto, ON, Canada
Sean Cleary, Ashton A. Connor & Steven Gallinger
School of Biological Sciences, University of Auckland, Auckland, New Zealand
Nicole Cloonan
Department of Surgery, University of Melbourne, Parkville, VIC, Australia
Marek Cmero
The Murdoch Children’s Research Institute, Royal Children’s Hospital, Parkville, VIC, Australia
Marek Cmero
Walter and Eliza Hall Institute, Parkville, VIC, Australia
Marek Cmero
Vancouver Prostate Centre, Vancouver, Canada
Colin C. Collins, Nilgun Donmez, Faraz Hach, Salem Malikic, S. Cenk Sahinalp, Iman Sarrafi & Raunak Shrestha
Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, ON, Canada
Ashton A. Connor, Steven Gallinger, Robert C. Grant, Treasa A. McPherson & Iris Selander
University of East Anglia, Norwich, UK
Colin S. Cooper
Norfolk and Norwich University Hospital NHS Trust, Norwich, UK
Matthew G. Cordes, Catrina C. Fronick & Tom Roques
Victorian Institute of Forensic Medicine, Southbank, VIC, Australia
Stephen M. Cordner
Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA
Isidro Cortés-Ciriano, Jake June-Koo Lee & Peter J. Park
Department of Chemistry, Centre for Molecular Science Informatics, University of Cambridge, Cambridge, UK
Isidro Cortés-Ciriano
Ludwig Center at Harvard Medical School, Boston, MA, USA
Isidro Cortés-Ciriano, Jake June-Koo Lee & Peter J. Park
Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA
Kyle Covington, HarshaVardhan Doddapaneni, Richard A. Gibbs, Jianhong Hu, Joy C. Jayaseelan, Viktoriya Korchina, Lora Lewis, Donna M. Muzny, Linghua Wang, David A. Wheeler & Liu Xi
Peter MacCallum Cancer Centre, University of Melbourne, Melbourne, VIC, Australia
Prue A. Cowin, Anne Hamilton, Gisela Mir Arnau & Ravikiran Vedururu
Physics Division, Optimization and Systems Biology Lab, Massachusetts General Hospital, Boston, MA, USA
David Craft
Department of Medicine, Baylor College of Medicine, Houston, TX, USA
Chad J. Creighton
University of Cologne, Cologne, Germany
Yupeng Cun, Martin Peifer & Tsun-Po Yang
International Genomics Consortium, Phoenix, AZ, USA
Erin Curley & Troy Shelton
Genomics Research Program, Ontario Institute for Cancer Research, Toronto, ON, Canada
Karolina Czajka, Jenna Eagles, Thomas J. Hudson, Jeremy Johns, Faridah Mbabaali, John D. McPherson, Jessica K. Miller, Danielle Pasternack, Michelle Sam & Lee E. Timms
Barking Havering and Redbridge University Hospitals NHS Trust, Romford, UK
Bogdan Czerniak, Adel El-Naggar & David Khoo
Children’s Hospital at Westmead, University of Sydney, Sydney, NSW, Australia
Rebecca A. Dagg
Department of Medicine, Section of Endocrinology, University and Hospital Trust of Verona, Verona, Italy
Maria Vittoria Davi
Computational Biology Center, Memorial Sloan Kettering Cancer Center, New York, NY, USA
Natalie R. Davidson, Andre Kahles, Kjong-Van Lehmann, Alessandro Pastore, Gunnar Rätsch, Chris Sander, Yasin Senbabaoglu & Nicholas D. Socci
Department of Biology, ETH Zurich, Zürich, Switzerland
Natalie R. Davidson, Andre Kahles, Kjong-Van Lehmann, Gunnar Rätsch & Stefan G. Stark
Department of Computer Science, ETH Zurich, Zurich, Switzerland
Natalie R. Davidson, Andre Kahles, Kjong-Van Lehmann & Gunnar Rätsch
SIB Swiss Institute of Bioinformatics, Lausanne, Switzerland
Natalie R. Davidson, Andre Kahles, Kjong-Van Lehmann, Gunnar Rätsch & Stefan G. Stark
Weill Cornell Medical College, New York, NY, USA
Natalie R. Davidson, Bishoy M. Faltas & Gunnar Rätsch
Academic Department of Medical Genetics, University of Cambridge, Addenbrooke’s Hospital, Cambridge, UK
Helen Davies & Serena Nik-Zainal
MRC Cancer Unit, University of Cambridge, Cambridge, UK
Helen Davies, Rebecca C. Fitzgerald, Nicola Grehan, Serena Nik-Zainal & Maria O’Donovan
Departments of Pediatrics and Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA
Ian J. Davis
Seven Bridges Genomics, Charlestown, MA, USA
Brandi N. Davis-Dusenbery, Sinisa Ivkovic, Milena Kovacevic, Ana Mijalkovic Lazic, Sanja Mijalkovic, Mia Nastic, Petar Radovic & Nebojsa Tijanic
Annai Systems, Inc, Carlsbad, CA, USA
Francisco M. De La Vega, Tal Shmaya & Dai-Ying Wu
Department of Pathology, General Hospital of Treviso, Department of Medicine, University of Padua, Treviso, Italy
Angelo P. Dei Tos
Department of Computational Biology, University of Lausanne, Lausanne, Switzerland
Olivier Delaneau
Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, CH, Switzerland
Olivier Delaneau
Swiss Institute of Bioinformatics, University of Geneva, Geneva, CH, Switzerland
Olivier Delaneau
The Francis Crick Institute, London, UK
Jonas Demeulemeester, Stefan C. Dentro, Matthew W. Fittall, Kerstin Haase, Clemency Jolly, Maxime Tarabichi & Peter Van Loo
University of Leuven, Leuven, Belgium
Jonas Demeulemeester & Peter Van Loo
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany
German M. Demidov, Francesc Muyas & Stephan Ossowski
Computational and Systems Biology, Genome Institute of Singapore, Singapore, Singapore
Deniz Demircioğlu & Jonathan Göke
School of Computing, National University of Singapore, Singapore, Singapore
Deniz Demircioğlu
Big Data Institute, Li Ka Shing Centre, University of Oxford, Oxford, UK
Stefan C. Dentro & David C. Wedge
Biomedical Data Science Laboratory, Francis Crick Institute, London, UK
Nikita Desai
Bioinformatics Group, Department of Computer Science, University College London, London, UK
Nikita Desai
The Edward S. Rogers Sr. Department of Electrical and Computer Engineering, University of Toronto, Toronto, ON, Canada
Amit G. Deshwar
Breast Cancer Translational Research Laboratory JC Heuson, Institut Jules Bordet, Brussels, Belgium
Christine Desmedt
Department of Oncology, Laboratory for Translational Breast Cancer Research, KU Leuven, Leuven, Belgium
Christine Desmedt
Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain
Jordi Deu-Pons, Joan Frigola, Abel Gonzalez-Perez, Ferran Muiños, Loris Mularoni, Oriol Pich, Iker Reyes-Salazar, Carlota Rubio-Perez, Radhakrishnan Sabarinathan & David Tamborero
Research Program on Biomedical Informatics, Universitat Pompeu Fabra, Barcelona, Spain
Jordi Deu-Pons, Abel Gonzalez-Perez, Ferran Muiños, Loris Mularoni, Oriol Pich, Carlota Rubio-Perez, Radhakrishnan Sabarinathan & David Tamborero
Division of Medical Oncology, Princess Margaret Cancer Centre, Toronto, ON, Canada
Neesha C. Dhani, David Hedley & Malcolm J. Moore
Department of Physiology and Biophysics, Weill Cornell Medicine, New York, NY, USA
Priyanka Dhingra, Ekta Khurana, Eric Minwei Liu & Alexander Martinez-Fundichely
Institute for Computational Biomedicine, Weill Cornell Medicine, New York, NY, USA
Priyanka Dhingra, Ekta Khurana, Eric Minwei Liu & Alexander Martinez-Fundichely
Department of Pathology, UPMC Shadyside, Pittsburgh, PA, USA
Rajiv Dhir
Independent Consultant, Wellesley, USA
Anthony DiBiase
Department of Cell and Molecular Biology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden
Klev Diamanti, Jan Komorowski & Husen M. Umer
Department of Medicine and Department of Genetics, Washington University School of Medicine, St. Louis, St. Louis, MO, USA
Li Ding, Robert S. Fulton, Michael D. McLellan, Michael C. Wendl & Venkata D. Yellapantula
Hefei University of Technology, Anhui, China
Shuai Ding & Shanlin Yang
Translational Cancer Research Unit, GZA Hospitals St.-Augustinus, Center for Oncological Research, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium
Luc Dirix, Steven Van Laere, Gert G. Van den Eynden & Peter Vermeulen
Simon Fraser University, Burnaby, BC, Canada
Nilgun Donmez, Ermin Hodzic, Salem Malikic, S. Cenk Sahinalp & Iman Sarrafi
University of Pennsylvania, Philadelphia, PA, USA
Ronny Drapkin
Faculty of Science and Technology, University of Vic—Central University of Catalonia (UVic-UCC), Vic, Spain
Ana Dueso-Barroso
The Wellcome Trust, London, UK
Michael Dunn
The Hospital for Sick Children, Toronto, ON, Canada
Lewis Jonathan Dursi
Department of Pathology, Queen Elizabeth University Hospital, Glasgow, UK
Fraser R. Duthie
Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia
Ken Dutton-Regester, Nicholas K. Hayward, Oliver Holmes, Peter A. Johansson, Stephen H. Kazakoff, Conrad R. Leonard, Felicity Newell, Katia Nones, Ann-Marie Patch, John V. Pearson, Antonia L. Pritchard, Michael C. Quinn, Paresh Vyas, Nicola Waddell, Scott Wood & Qinying Xu
Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK
Douglas F. Easton
Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK
Douglas F. Easton
Prostate Cancer Canada, Toronto, ON, Canada
Stuart Edmonds
University of Cambridge, Cambridge, UK
Paul A. Edwards, Anthony R. Green, Andy G. Lynch, Florian Markowetz & Thomas J. Mitchell
Department of Laboratory Medicine, Translational Cancer Research, Lund University Cancer Center at Medicon Village, Lund University, Lund, Sweden
Anna Ehinger
Heidelberg University, Heidelberg, Germany
Juergen Eils, Roland Eils & Daniel Hübschmann
New BIH Digital Health Center, Berlin Institute of Health (BIH) and Charité - Universitätsmedizin Berlin, Berlin, Germany
Juergen Eils, Roland Eils & Chris Lawerenz
CIBER Epidemiología y Salud Pública (CIBERESP), Madrid, Spain
Georgia Escaramis
Research Group on Statistics, Econometrics and Health (GRECS), UdG, Barcelona, Spain
Georgia Escaramis
Quantitative Genomics Laboratories (qGenomics), Barcelona, Spain
Xavier Estivill
Icelandic Cancer Registry, Icelandic Cancer Society, Reykjavik, Iceland
Jorunn E. Eyfjord, Holmfridur Hilmarsdottir & Jon G. Jonasson
State Key Laboratory of Cancer Biology, and Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Shaanxi, China
Daiming Fan & Yongzhan Nie
Department of Medicine (DIMED), Surgical Pathology Unit, University of Padua, Padua, Italy
Matteo Fassan
Rigshospitalet, Copenhagen, Denmark
Francesco Favero
Center for Cancer Genomics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA
Martin L. Ferguson
Department of Biochemistry and Molecular Medicine, University of Montreal, Montreal, QC, Canada
Vincent Ferretti
Australian Institute of Tropical Health and Medicine, James Cook University, Douglas, QLD, Australia
Matthew A. Field
Department of Neuro-Oncology, Istituto Neurologico Besta, Milano, Italy
Gaetano Finocchiaro
Bioplatforms Australia, North Ryde, NSW, Australia
Anna Fitzgerald & Catherine A. Shang
Department of Pathology (Research), University College London Cancer Institute, London, UK
Adrienne M. Flanagan
Department of Surgical Oncology, Princess Margaret Cancer Centre, Toronto, ON, Canada
Neil E. Fleshner
Department of Medical Oncology, Josephine Nefkens Institute and Cancer Genomics Centre, Erasmus Medical Center, Rotterdam, CN, The Netherlands
John A. Foekens, John W. M. Martens, F. Germán Rodríguez-González, Anieta M. Sieuwerts & Marcel Smid
The University of Queensland Thoracic Research Centre, The Prince Charles Hospital, Brisbane, QLD, Australia
Kwun M. Fong
CIBIO/InBIO - Research Center in Biodiversity and Genetic Resources, Universidade do Porto, Vairão, Portugal
Nuno A. Fonseca
HCA Laboratories, London, UK
Christopher S. Foster
University of Liverpool, Liverpool, UK
Christopher S. Foster
The Azrieli Faculty of Medicine, Bar-Ilan University, Safed, Israel
Milana Frenkel-Morgenstern
Department of Neurosurgery, University of Florida, Gainesville, FL, USA
William Friedman
Department of Pathology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
Masashi Fukayama & Tetsuo Ushiku
University of Milano Bicocca, Monza, Italy
Carlo Gambacorti-Passerini
BGI-Shenzhen, Shenzhen, China
Shengjie Gao, Yong Hou, Chang Li, Lin Li, Siliang Li, Xiaobo Li, Xinyue Li, Dongbing Liu, Xingmin Liu, Qiang Pan-Hammarström, Hong Su, Jian Wang, Kui Wu, Heng Xiong, Huanming Yang, Chen Ye, Xiuqing Zhang, Yong Zhou & Shida Zhu
Department of Pathology, Oslo University Hospital Ulleval, Oslo, Norway
Øystein Garred
Center for Biomedical Informatics, Harvard Medical School, Boston, MA, USA
Nils Gehlenborg
Department Biochemistry and Molecular Biomedicine, University of Barcelona, Barcelona, Spain
Josep L. L. Gelpi
Office of Cancer Genomics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA
Daniela S. Gerhard
Cancer Epigenomics, German Cancer Research Center (DKFZ), Heidelberg, Germany
Clarissa Gerhauser, Christoph Plass & Dieter Weichenhan
Department of Cancer Biology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Jeffrey E. Gershenwald
Department of Surgical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Jeffrey E. Gershenwald
Department of Computer Science, Yale University, New Haven, CT, USA
Mark Gerstein & Fabio C. P. Navarro
Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT, USA
Mark Gerstein, Sushant Kumar, Lucas Lochovsky, Shaoke Lou, Patrick D. McGillivray, Fabio C. P. Navarro, Leonidas Salichos & Jonathan Warrell
Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA
Mark Gerstein, Arif O. Harmanci, Sushant Kumar, Donghoon Lee, Shantao Li, Xiaotong Li, Lucas Lochovsky, Shaoke Lou, William Meyerson, Leonidas Salichos, Jonathan Warrell, Jing Zhang & Yan Zhang
Center for Cancer Research, Massachusetts General Hospital, Boston, MA, USA
Gad Getz & Paz Polak
Department of Pathology, Massachusetts General Hospital, Boston, MA, USA
Gad Getz
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA
Ronald Ghossein, Dilip D. Giri, Christine A. Iacobuzio-Donahue, Jorge Reis-Filho & Victor Reuter
Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN, USA
Nasra H. Giama, Catherine D. Moser & Lewis R. Roberts
University of Sydney, Sydney, NSW, Australia
Anthony J. Gill & James G. Kench
University of Oxford, Oxford, UK
Pelvender Gill, Freddie C. Hamdy, Katalin Karaszi, Adam Lambert, Luke Marsden, Clare Verrill & Paresh Vyas
Department of Surgery, Academic Urology Group, University of Cambridge, Cambridge, UK
Vincent J. Gnanapragasam
Department of Medicine II, University of Würzburg, Wuerzburg, Germany
Maria Elisabeth Goebler
Sylvester Comprehensive Cancer Center, University of Miami, Miami, FL, USA
Carmen Gomez
Institut Hospital del Mar d’Investigacions Mèdiques (IMIM), Barcelona, Spain
Abel Gonzalez-Perez
Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences (NIEHS), Durham, NC, USA
Dmitry A. Gordenin & Natalie Saini
St. Thomas’s Hospital, London, UK
James Gossage
Osaka International Cancer Center, Osaka, Japan
Kunihito Gotoh
Department of Pathology, Skåne University Hospital, Lund University, Lund, Sweden
Dorthe Grabau
Department of Medical Oncology, Beatson West of Scotland Cancer Centre, Glasgow, UK
Janet S. Graham
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
Eric Green, Carolyn M. Hutter & Heidi J. Sofia
Centre for Cancer Research, Victorian Comprehensive Cancer Centre, University of Melbourne, Melbourne, VIC, Australia
Sean M. Grimmond
Department of Medicine, Section of Hematology/Oncology, University of Chicago, Chicago, IL, USA
Robert L. Grossman
German Center for Infection Research (DZIF), Partner Site Hamburg-Borstel-Lübeck-Riems, Hamburg, Germany
Adam Grundhoff
Bioinformatics Research Centre (BiRC), Aarhus University, Aarhus, Denmark
Qianyun Guo, Asger Hobolth & Jakob Skou Pedersen
Department of Biotechnology, Ministry of Science and Technology, Government of India, New Delhi, Delhi, India
Shailja Gupta & K. VijayRaghavan
National Cancer Centre Singapore, Singapore, Singapore
Jonathan Göke
Brandeis University, Waltham, MA, USA
James E. Haber
Department of Urologic Sciences, University of British Columbia, Vancouver, BC, Canada
Faraz Hach
Department of Internal Medicine, Stanford University, Stanford, CA, USA
Mark P. Hamilton
The University of Texas Health Science Center at Houston, Houston, TX, USA
Leng Han, Yang Yang & Xuanping Zhang
Imperial College NHS Trust, Imperial College, London, INY, UK
George B. Hanna
Senckenberg Institute of Pathology, University of Frankfurt Medical School, Frankfurt, Germany
Martin Hansmann
Department of Medicine, Division of Biomedical Informatics, UC San Diego School of Medicine, San Diego, CA, USA
Olivier Harismendy
Center for Precision Health, School of Biomedical Informatics, The University of Texas Health Science Center, Houston, TX, USA
Arif O. Harmanci
Oxford Nanopore Technologies, New York, NY, USA
Eoghan Harrington & Sissel Juul
Institute of Medical Science, University of Tokyo, Tokyo, Japan
Takanori Hasegawa, Shuto Hayashi, Seiya Imoto, Mitsuhiro Komura, Satoru Miyano, Naoki Miyoshi, Kazuhiro Ohi, Eigo Shimizu, Yuichi Shiraishi, Hiroko Tanaka & Rui Yamaguchi
Howard Hughes Medical Institute, University of California Santa Cruz, Santa Cruz, CA, USA
David Haussler
Wakayama Medical University, Wakayama, Japan
Shinya Hayami, Masaki Ueno & Hiroki Yamaue
Department of Internal Medicine, Division of Medical Oncology, Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA
D. Neil Hayes
University of Tennessee Health Science Center for Cancer Research, Memphis, TN, USA
D. Neil Hayes
Department of Histopathology, Salford Royal NHS Foundation Trust, Salford, UK
Stephen J. Hayes
Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK
Stephen J. Hayes
BIOPIC, ICG and College of Life Sciences, Peking University, Beijing, China
Yao He & Zemin Zhang
Peking-Tsinghua Center for Life Sciences, Peking University, Beijing, China
Yao He & Zemin Zhang
Children’s Hospital of Philadelphia, Philadelphia, PA, USA
Allison P. Heath
Department of Bioinformatics and Computational Biology and Department of Systems Biology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Apurva M. Hegde, Yiling Lu & John N. Weinstein
Karolinska Institute, Stockholm, Sweden
Eva Hellstrom-Lindberg & Jesper Lagergren
The Donnelly Centre, University of Toronto, Toronto, ON, Canada
Mohamed Helmy & Jeffrey A. Wintersinger
Department of Medical Genetics, College of Medicine, Hallym University, Chuncheon, South Korea
Seong Gu Heo, Eun Pyo Hong & Ji Wan Park
Department of Experimental and Health Sciences, Institute of Evolutionary Biology (UPF-CSIC), Universitat Pompeu Fabra, Barcelona, Spain
José María Heredia-Genestar, Tomas Marques-Bonet & Arcadi Navarro
Health Data Science Unit, University Clinics, Heidelberg, Germany
Carl Herrmann
Massachusetts General Hospital Center for Cancer Research, Charlestown, MA, USA
Julian M. Hess & Yosef E. Maruvka
Hokkaido University, Sapporo, Japan
Satoshi Hirano & Toru Nakamura
Department of Pathology and Clinical Laboratory, National Cancer Center Hospital, Tokyo, Japan
Nobuyoshi Hiraoka
Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA
Katherine A. Hoadley & Tara J. Skelly
Computational Biology, Leibniz Institute on Aging - Fritz Lipmann Institute (FLI), Jena, Germany
Steve Hoffmann
University of Melbourne Centre for Cancer Research, Melbourne, VIC, Australia
Oliver Hofmann
University of Nebraska Medical Center, Omaha, NE, USA
Michael A. Hollingsworth & Sarah P. Thayer
Syntekabio Inc, Daejeon, South Korea
Jongwhi H. Hong
Department of Pathology, Academic Medical Center, Amsterdam, AZ, The Netherlands
Gerrit K. Hooijer
China National GeneBank-Shenzhen, Shenzhen, China
Yong Hou, Chang Li, Siliang Li, Xiaobo Li, Dongbing Liu, Xingmin Liu, Henk G. Stunnenberg, Hong Su, Kui Wu, Heng Xiong, Chen Ye & Shida Zhu
Division of Molecular Genetics, German Cancer Research Center (DKFZ), Heidelberg, Germany
Volker Hovestadt, Murat Iskar, Peter Lichter, Bernhard Radlwimmer & Marc Zapatka
Division of Life Science and Applied Genomics Center, Hong Kong University of Science and Technology, Clear Water Bay, Hong Kong, China
Taobo Hu, Yogesh Kumar, Eric Z. Ma, Zhenggang Wu & Hong Xue
Icahn School of Medicine at Mount Sinai, New York, NY, USA
Kuan-lin Huang
Geneplus-Shenzhen, Shenzhen, China
Yi Huang
School of Computer Science and Technology, Xi’an Jiaotong University, Xi’an, China
Yi Huang, Jiayin Wang, Xiao Xiao & Xuanping Zhang
AbbVie, North Chicago, IL, USA
Thomas J. Hudson
Institute of Pathology, Charité – University Medicine Berlin, Berlin, Germany
Michael Hummel & Dido Lenze
Centre for Translational and Applied Genomics, British Columbia Cancer Agency, Vancouver, BC, Canada
David Huntsman
Edinburgh Royal Infirmary, Edinburgh, UK
Ted R. Hupp
Berlin Institute for Medical Systems Biology, Max Delbrück Center for Molecular Medicine, Berlin, Germany
Matthew R. Huska, Julia Markowski & Roland F. Schwarz
Department of Pediatric Immunology, Hematology and Oncology, University Hospital, Heidelberg, Germany
Daniel Hübschmann
German Cancer Research Center (DKFZ), Heidelberg, Germany
Daniel Hübschmann, Christof von Kalle & Roland F. Schwarz
Heidelberg Institute for Stem Cell Technology and Experimental Medicine (HI-STEM), Heidelberg, Germany
Daniel Hübschmann
Institute for Computational Biomedicine, Weill Cornell Medical College, New York, NY, USA
Marcin Imielinski
New York Genome Center, New York, NY, USA
Marcin Imielinski & Xiaotong Yao
Department of Urology, James Buchanan Brady Urological Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA
William B. Isaacs
Department of Preventive Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan
Shumpei Ishikawa, Hiroto Katoh & Daisuke Komura
Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX, USA
Michael Ittmann
Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX, USA
Michael Ittmann
Michael E. DeBakey Veterans Affairs Medical Center, Houston, TX, USA
Michael Ittmann
Technical University of Denmark, Lyngby, Denmark
Jose M. G. Izarzugaza
Department of Pathology, College of Medicine, Hanyang University, Seoul, South Korea
Jocelyne Jacquemier, Hyung-Yong Kim & Gu Kong
Academic Unit of Surgery, School of Medicine, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow Royal Infirmary, Glasgow, UK
Nigel B. Jamieson
Department of Pathology, Asan Medical Center, College of Medicine, Ulsan University, Songpa-gu, Seoul, South Korea
Se Jin Jang & Hee Jin Lee
Science Writer, Garrett Park, MD, USA
Karine Jegalian
International Cancer Genome Consortium (ICGC)/ICGC Accelerating Research in Genomic Oncology (ARGO) Secretariat, Ontario Institute for Cancer Research, Toronto, ON, Canada
Jennifer L. Jennings
University of Ljubljana, Ljubljana, Slovenia
Lara Jerman
Department of Public Health Sciences, University of Chicago, Chicago, IL, USA
Yuan Ji
Research Institute, NorthShore University HealthSystem, Evanston, IL, USA
Yuan Ji
Department for Biomedical Research, University of Bern, Bern, Switzerland
Rory Johnson, Andrés Lanzós & Mark A. Rubin
Centre of Genomics and Policy, McGill University and Génome Québec Innovation Centre, Montreal, QC, Canada
Yann Joly, Bartha M. Knoppers, Mark Phillips & Adrian Thorogood
Carolina Center for Genome Sciences, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA
Corbin D. Jones
Hopp Children’s Cancer Center (KiTZ), Heidelberg, Germany
David T. W. Jones, Marcel Kool & Stefan M. Pfister
Pediatric Glioma Research Group, German Cancer Research Center (DKFZ), Heidelberg, Germany
David T. W. Jones
Cancer Research UK, London, UK
Nic Jones & David Scott
Indivumed GmbH, Hamburg, Germany
Hartmut Juhl
Genome Integration Data Center, Syntekabio, Inc, Daejeon, South Korea
Jongsun Jung
University Hospital Zurich, Zurich, Switzerland
Andre Kahles, Kjong-Van Lehmann & Gunnar Rätsch
Clinical Bioinformatics, Swiss Institute of Bioinformatics, Geneva, Switzerland
Abdullah Kahraman
Institute for Pathology and Molecular Pathology, University Hospital Zurich, Zurich, Switzerland
Abdullah Kahraman
Institute of Molecular Life Sciences, University of Zurich, Zurich, Switzerland
Abdullah Kahraman & Christian von Mering
MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Edinburgh, UK
Vera B. Kaiser & Colin A. Semple
Women’s Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA
Beth Karlan
Department of Biology, Bioinformatics Group, Division of Molecular Biology, Faculty of Science, University of Zagreb, Zagreb, Croatia
Rosa Karlić
Department for Internal Medicine II, University Hospital Schleswig-Holstein, Kiel, Germany
Dennis Karsch & Michael Kneba
Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia
Karin S. Kassahn
Department of Gastric Surgery, National Cancer Center Hospital, Tokyo, Japan
Hitoshi Katai
Department of Bioinformatics, Division of Cancer Genomics, National Cancer Center Research Institute, Tokyo, Japan
Mamoru Kato, Hirofumi Rokutan & Mihoko Saito-Adachi
A.A. Kharkevich Institute of Information Transmission Problems, Moscow, Russia
Marat D. Kazanov
Oncology and Immunology, Dmitry Rogachev National Research Center of Pediatric Hematology, Moscow, Russia
Marat D. Kazanov
Skolkovo Institute of Science and Technology, Moscow, Russia
Marat D. Kazanov
Department of Surgery, The George Washington University, School of Medicine and Health Science, Washington, DC, USA
Electron Kebebew
Endocrine Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA
Electron Kebebew
Melanoma Institute Australia, Macquarie University, Sydney, NSW, Australia
Richard F. Kefford
MIT Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA, USA
Manolis Kellis
Tissue Pathology and Diagnostic Oncology, Royal Prince Alfred Hospital, Sydney, NSW, Australia
James G. Kench & Richard A. Scolyer
Cholangiocarcinoma Screening and Care Program and Liver Fluke and Cholangiocarcinoma Research Centre, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand
Narong Khuntikeo
Controlled Department and Institution, New York, NY, USA
Ekta Khurana
Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA
Ekta Khurana & Alexander Martinez-Fundichely
National Cancer Center, Gyeonggi, South Korea
Hark Kyun Kim
Department of Biochemistry, College of Medicine, Ewha Womans University, Seoul, South Korea
Hyung-Lae Kim
Health Sciences Department of Biomedical Informatics, University of California San Diego, La Jolla, CA, USA
Jihoon Kim
Research Core Center, National Cancer Centre Korea, Goyang-si, South Korea
Jong K. Kim
Department of Health Sciences and Technology, Sungkyunkwan University School of Medicine, Seoul, South Korea
Youngwook Kim
Samsung Genome Institute, Seoul, South Korea
Youngwook Kim
Breast Oncology Program, Dana-Farber/Brigham and Women’s Cancer Center, Boston, MA, USA
Tari A. King
Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA
Tari A. King & Samuel Singer
Division of Breast Surgery, Brigham and Women’s Hospital, Boston, MA, USA
Tari A. King
Integrative Bioinformatics Support Group, National Institute of Environmental Health Sciences (NIEHS), Durham, NC, USA
Leszek J. Klimczak
Department of Clinical Science, University of Bergen, Bergen, Norway
Stian Knappskog & Ola Myklebost
Center For Medical Innovation, Seoul National University Hospital, Seoul, South Korea
Youngil Koh
Department of Internal Medicine, Seoul National University Hospital, Seoul, South Korea
Youngil Koh & Sung-Soo Yoon
Institute of Computer Science, Polish Academy of Sciences, Warsawa, Poland
Jan Komorowski
Functional and Structural Genomics, German Cancer Research Center (DKFZ), Heidelberg, Germany
Marcel Kool, Andrey Korshunov, Michael Koscher, Stefan M. Pfister & Qi Wang
Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, , National Institutes of Health, Bethesda, MD, USA
Roelof Koster
Institute for Medical Informatics Statistics and Epidemiology, University of Leipzig, Leipzig, Germany
Markus Kreuz & Markus Loeffler
Morgan Welch Inflammatory Breast Cancer Research Program and Clinic, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Savitri Krishnamurthy
Department of Hematology and Oncology, Georg-Augusts-University of Göttingen, Göttingen, Germany
Dieter Kube & Lorenz H. P. Trümper
Institute of Cell Biology (Cancer Research), University of Duisburg-Essen, Essen, Germany
Ralf Küppers
King’s College London and Guy’s and St. Thomas’ NHS Foundation Trust, London, UK
Jesper Lagergren
Center for Epigenetics, Van Andel Research Institute, Grand Rapids, MI, USA
Peter W. Laird
The University of Queensland Centre for Clinical Research, Royal Brisbane and Women’s Hospital, Herston, QLD, Australia
Sunil R. Lakhani & Peter T. Simpson
Department of Pediatric Oncology and Hematology, University of Cologne, Cologne, Germany
Pablo Landgraf
University of Düsseldorf, Düsseldorf, Germany
Pablo Landgraf & Guido Reifenberger
Department of Pathology, Institut Jules Bordet, Brussels, Belgium
Denis Larsimont
Institute of Biomedicine, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden
Erik Larsson
Children’s Medical Research Institute, Sydney, NSW, Australia
Loretta M. S. Lau & Hilda A. Pickett
ILSbio, LLC Biobank, Chestertown, MD, USA
Xuan Le
Division of Genetics and Genomics, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA
Eunjung Alice Lee
Institute for Bioengineering and Biopharmaceutical Research (IBBR), Hanyang University, Seoul, South Korea
Jeong-Yeon Lee
Department of Statistics, University of California Santa Cruz, Santa Cruz, CA, USA
Juhee Lee
National Genotyping Center, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan
Ming Ta Michael Lee
Department of Vertebrate Genomics/Otto Warburg Laboratory Gene Regulation and Systems Biology of Cancer, Max Planck Institute for Molecular Genetics, Berlin, Germany
Hans Lehrach, Hans-Jörg Warnatz & Marie-Laure Yaspo
McGill University and Genome Quebec Innovation Centre, Montreal, QC, Canada
Louis Letourneau
biobyte solutions GmbH, Heidelberg, Germany
Ivica Letunic
Gynecologic Oncology, NYU Laura and Isaac Perlmutter Cancer Center, New York University, New York, NY, USA
Douglas A. Levine
Division of Oncology, Stem Cell Biology Section, Washington University School of Medicine, St. Louis, MO, USA
Tim Ley
Department of Systems Biology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Han Liang
Harvard University, Cambridge, MA, USA
Ziao Lin
Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA
W. M. Linehan
University of Oslo, Oslo, Norway
Ole Christian Lingjærde & Torill Sauer
University of Toronto, Toronto, ON, Canada
Fei-Fei Fei Liu, Quaid D. Morris, Ruian Shi, Shankar Vembu & Fan Yang
Peking University, Beijing, China
Fenglin Liu, Fan Zhang, Liangtao Zheng & Xiuqing Zheng
School of Life Sciences, Peking University, Beijing, China
Fenglin Liu
Leidos Biomedical Research, Inc, McLean, VA, USA
Jia Liu
Hematology, Hospital Clinic, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, Barcelona, Spain
Armando Lopez-Guillermo
Second Military Medical University, Shanghai, China
Yong-Jie Lu & Hongwei Zhang
Chinese Cancer Genome Consortium, Shenzhen, China
Youyong Lu
Department of Medical Oncology, Beijing Hospital, Beijing, China
Youyong Lu
Laboratory of Molecular Oncology, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital and Institute, Beijing, China
Youyong Lu & Rui Xing
School of Medicine/School of Mathematics and Statistics, University of St. Andrews, St, Andrews, Fife, UK
Andy G. Lynch
Institute for Systems Biology, Seattle, WA, USA
Lisa Lype, Sheila M. Reynolds & Ilya Shmulevich
Department of Biochemistry and Molecular Biology, Faculty of Medicine, University Institute of Oncology-IUOPA, Oviedo, Spain
Carlos López-Otín & Xose S. Puente
Institut Bergonié, Bordeaux, France
Gaetan MacGrogan
Cancer Unit, MRC University of Cambridge, Cambridge, UK
Shona MacRae
Department of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children’s Hospital Los Angeles, Los Angeles, CA, USA
Dennis T. Maglinte
John Curtin School of Medical Research, Canberra, ACT, Australia
Graham J. Mann
MVZ Department of Oncology, PraxisClinic am Johannisplatz, Leipzig, Germany
Luisa Mantovani-Löffler
Department of Information Technology, Ghent University, Ghent, Belgium
Kathleen Marchal & Sergio Pulido-Tamayo
Department of Plant Biotechnology and Bioinformatics, Ghent University, Ghent, Belgium
Kathleen Marchal, Sergio Pulido-Tamayo & Lieven P. C. Verbeke
Institute for Genomic Medicine, Nationwide Children’s Hospital, Columbus, OH, USA
Elaine R. Mardis
Computational Biology Program, School of Medicine, Oregon Health and Science University, Portland, OR, USA
Adam A. Margolin & Adam J. Struck
Department of Surgery, Duke University, Durham, NC, USA
Jeffrey Marks
Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain
Tomas Marques-Bonet, Jose I. Martin-Subero, Arcadi Navarro, David Torrents & Alfonso Valencia
Institut Català de Paleontologia Miquel Crusafont, Universitat Autònoma de Barcelona, Barcelona, Spain
Tomas Marques-Bonet
University of Glasgow, Glasgow, UK
Sancha Martin & Ke Yuan
Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain
Jose I. Martin-Subero
Division of Oncology, Washington University School of Medicine, St. Louis, MO, USA
R. Jay Mashl
Department of Surgery and Cancer, Imperial College, London, INY, UK
Erik Mayer
Applications Department, Oxford Nanopore Technologies, Oxford, UK
Simon Mayes & Daniel J. Turner
Department of Obstetrics, Gynecology and Reproductive Services, University of California San Francisco, San Francisco, CA, USA
Karen McCune & Karen Smith-McCune
Department of Biochemistry and Molecular Medicine, University California at Davis, Sacramento, CA, USA
John D. McPherson
STTARR Innovation Facility, Princess Margaret Cancer Centre, Toronto, ON, Canada
Alice Meng
Discipline of Surgery, Western Sydney University, Penrith, NSW, Australia
Neil D. Merrett
Yale School of Medicine, Yale University, New Haven, CT, USA
William Meyerson
Department of Genetics, Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA
Piotr A. Mieczkowski, Joel S. Parker, Charles M. Perou, Donghui Tan, Umadevi Veluvolu & Matthew D. Wilkerson
Departments of Neurology and Neurosurgery, Henry Ford Hospital, Detroit, MI, USA
Tom Mikkelsen
Precision Oncology, OHSU Knight Cancer Institute, Oregon Health and Science University, Portland, OR, USA
Gordon B. Mills
Institute of Pathology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
Sarah Minner, Guido Sauter & Ronald Simon
Department of Health Sciences, Faculty of Medical Sciences, Kyushu University, Fukuoka, Japan
Shinichi Mizuno
Heidelberg Academy of Sciences and Humanities, Heidelberg, Germany
Fruzsina Molnár-Gábor
Department of Clinical Pathology, University of Melbourne, Melbourne, VIC, Australia
Carl Morrison, Karin A. Oien, Chawalit Pairojkul, Paul M. Waring & Marc J. van de Vijver
Department of Pathology, Roswell Park Cancer Institute, Buffalo, NY, USA
Carl Morrison
Department of Computer Science, University of Helsinki, Helsinki, Finland
Ville Mustonen
Institute of Biotechnology, University of Helsinki, Helsinki, Finland
Ville Mustonen
Organismal and Evolutionary Biology Research Programme, University of Helsinki, Helsinki, Finland
Ville Mustonen
Department of Obstetrics and Gynecology, Division of Gynecologic Oncology, Washington University School of Medicine, St. Louis, MO, USA
David Mutch
Penrose St. Francis Health Services, Colorado Springs, CO, USA
Jerome Myers
Institute of Pathology, Ulm University and University Hospital of Ulm, Ulm, Germany
Peter Möller
National Cancer Center, Tokyo, Japan
Hitoshi Nakagama
Genome Institute of Singapore, Singapore, Singapore
Tannistha Nandi & Patrick Tan
32Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA
Fabio C. P. Navarro
German Cancer Aid, Bonn, Germany
Gerd Nettekoven & Laura Planko
Programme in Cancer and Stem Cell Biology, Centre for Computational Biology, Duke-NUS Medical School, Singapore, Singapore
Alvin Wei Tian Ng
The Chinese University of Hong Kong, Shatin, NT, Hong Kong, China
Anthony Ng
Fourth Military Medical University, Shaanxi, China
Yongzhan Nie
The University of Cambridge School of Clinical Medicine, Cambridge, UK
Serena Nik-Zainal
St. Jude Children’s Research Hospital, Memphis, TN, USA
Paul A. Northcott
University Health Network, Princess Margaret Cancer Centre, Toronto, ON, Canada
Faiyaz Notta & Ming Tsao
Center for Biomolecular Science and Engineering, University of California Santa Cruz, Santa Cruz, CA, USA
Brian D. O’Connor
Department of Medicine, University of Chicago, Chicago, IL, USA
Peter O’Donnell
Department of Neurology, Mayo Clinic, Rochester, MN, USA
Brian Patrick O’Neill
Cambridge Oesophagogastric Centre, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK
J. Robert O’Neill
Department of Computer Science, Carleton College, Northfield, MN, USA
Layla Oesper
Institute of Cancer Sciences, College of Medical Veterinary and Life Sciences, University of Glasgow, Glasgow, UK
Karin A. Oien
Department of Epidemiology, University of Alabama at Birmingham, Birmingham, AL, USA
Akinyemi I. Ojesina
HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA
Akinyemi I. Ojesina
O’Neal Comprehensive Cancer Center, University of Alabama at Birmingham, Birmingham, AL, USA
Akinyemi I. Ojesina
Department of Pathology, Keio University School of Medicine, Tokyo, Japan
Hidenori Ojima
Department of Hepatobiliary and Pancreatic Oncology, National Cancer Center Hospital, Tokyo, Japan
Takuji Okusaka
Sage Bionetworks, Seattle, WA, USA
Larsson Omberg
Lymphoma Genomic Translational Research Laboratory, National Cancer Centre, Singapore, Singapore
Choon Kiat Ong
Department of Clinical Pathology, Robert-Bosch-Hospital, Stuttgart, Germany
German Ott
Department of Cell and Systems Biology, University of Toronto, Toronto, ON, Canada
B. F. Francis Ouellette
Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden
Qiang Pan-Hammarström
Center for Liver Cancer, Research Institute and Hospital, National Cancer Center, Gyeonggi, South Korea
Joong-Won Park
Division of Hematology-Oncology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea
Keunchil Park
Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University School of Medicine, Seoul, South Korea
Keunchil Park
Cheonan Industry-Academic Collaboration Foundation, Sangmyung University, Cheonan, South Korea
Kiejung Park
NYU Langone Medical Center, New York, NY, USA
Harvey Pass
Department of Hematology and Medical Oncology, Cleveland Clinic, Cleveland, OH, USA
Nathan A. Pennell
Department of Radiation Oncology, University of California San Francisco, San Francisco, CA, USA
Marc D. Perry
Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA
Gloria M. Petersen
Helen F. Graham Cancer Center at Christiana Care Health Systems, Newark, DE, USA
Nicholas Petrelli
Heidelberg University Hospital, Heidelberg, Germany
Stefan M. Pfister
CSRA Incorporated, Fairfax, VA, USA
Todd D. Pihl
Research Department of Pathology, University College London Cancer Institute, London, UK
Nischalan Pillay
Department of Research Oncology, Guy’s Hospital, King’s Health Partners AHSC, King’s College London School of Medicine, London, UK
Sarah Pinder
Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW, Australia
Andreia V. Pinho
University Hospital of Minjoz, INSERM UMR 1098, Besançon, France
Xavier Pivot
Spanish National Cancer Research Centre, Madrid, Spain
Tirso Pons
Center of Digestive Diseases and Liver Transplantation, Fundeni Clinical Institute, Bucharest, Romania
Irinel Popescu
Cureline, Inc, South San Francisco, CA, USA
Olga Potapova
St. Luke’s Cancer Centre, Royal Surrey County Hospital NHS Foundation Trust, Guildford, UK
Shaun R. Preston
Cambridge Breast Unit, Addenbrooke’s Hospital, Cambridge University Hospital NHS Foundation Trust and NIHR Cambridge Biomedical Research Centre, Cambridge, UK
Elena Provenzano
East of Scotland Breast Service, Ninewells Hospital, Aberdeen, UK
Colin A. Purdie
Department of Genetics, Microbiology and Statistics, University of Barcelona, IRSJD, IBUB, Barcelona, Spain
Raquel Rabionet
Department of Obstetrics and Gynecology, Medical College of Wisconsin, Milwaukee, WI, USA
Janet S. Rader
Hematology and Medical Oncology, Winship Cancer Institute of Emory University, Atlanta, GA, USA
Suresh Ramalingam
Department of Computer Science, Princeton University, Princeton, NJ, USA
Benjamin J. Raphael & Matthew A. Reyna
Vanderbilt Ingram Cancer Center, Vanderbilt University, Nashville, TN, USA
W. Kimryn Rathmell
Ohio State University College of Medicine and Arthur G. James Comprehensive Cancer Center, Columbus, OH, USA
Matthew Ringel
Department of Surgery, Yokohama City University Graduate School of Medicine, Kanagawa, Japan
Yasushi Rino
Division of Chromatin Networks, German Cancer Research Center (DKFZ) and BioQuant, Heidelberg, Germany
Karsten Rippe
Research Computing Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA
Jeffrey Roach
School of Molecular Biosciences and Center for Reproductive Biology, Washington State University, Pullman, WA, USA
Steven A. Roberts
Finsen Laboratory and Biotech Research and Innovation Centre (BRIC), University of Copenhagen, Copenhagen, Denmark
F. Germán Rodríguez-González, Nikos Sidiropoulos & Joachim Weischenfeldt
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada
Michael H. A. Roehrl & Stefano Serra
Department of Pathology, Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA
Michael H. A. Roehrl
University Hospital Giessen, Pediatric Hematology and Oncology, Giessen, Germany
Marius Rohde
Oncologie Sénologie, ICM Institut Régional du Cancer, Montpellier, France
Gilles Romieu
Institute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany
Philip C. Rosenstiel & Markus B. Schilhabel
Institute of Pathology, University of Wuerzburg, Wuerzburg, Germany
Andreas Rosenwald
Department of Urology, North Bristol NHS Trust, Bristol, UK
Edward W. Rowe
SingHealth, Duke-NUS Institute of Precision Medicine, National Heart Centre Singapore, Singapore, Singapore
Steven G. Rozen, Patrick Tan & Bin Tean Teh
Department of Computer Science, University of Toronto, Toronto, ON, Canada
Yulia Rubanova, Jared T. Simpson & Jeffrey A. Wintersinger
Bern Center for Precision Medicine, University Hospital of Bern, University of Bern, Bern, Switzerland
Mark A. Rubin
Englander Institute for Precision Medicine, Weill Cornell Medicine and New York Presbyterian Hospital, New York, NY, USA
Mark A. Rubin
Meyer Cancer Center, Weill Cornell Medicine, New York, NY, USA
Mark A. Rubin
Pathology and Laboratory, Weill Cornell Medical College, New York, NY, USA
Mark A. Rubin
Vall d’Hebron Institute of Oncology: VHIO, Barcelona, Spain
Carlota Rubio-Perez
General and Hepatobiliary-Biliary Surgery, Pancreas Institute, University and Hospital Trust of Verona, Verona, Italy
Andrea Ruzzenente
National Centre for Biological Sciences, Tata Institute of Fundamental Research, Bangalore, India
Radhakrishnan Sabarinathan
Indiana University, Bloomington, IN, USA
S. Cenk Sahinalp
Department of Pathology, GZA-ZNA Hospitals, Antwerp, Belgium
Roberto Salgado
Analytical Biological Services, Inc, Wilmington, DE, USA
Charles Saller
Sydney Medical School, University of Sydney, Sydney, NSW, Australia
Jaswinder S. Samra & Richard A. Scolyer
cBio Center, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA
Chris Sander & Ciyue Shen
Department of Cell Biology, Harvard Medical School, Boston, MA, USA
Chris Sander & Ciyue Shen
Advanced Centre for Treatment Research and Education in Cancer, Tata Memorial Centre, Navi Mumbai, Maharashtra, India
Rajiv Sarin
School of Environmental and Life Sciences, Faculty of Science, The University of Newcastle, Ourimbah, NSW, Australia
Christopher J. Scarlett
Department of Dermatology, University Hospital of Essen, Essen, Germany
Dirk Schadendorf
Bioinformatics and Omics Data Analytics, German Cancer Research Center (DKFZ), Heidelberg, Germany
Matthias Schlesner
Department of Urology, Charité Universitätsmedizin Berlin, Berlin, Germany
Thorsten Schlomm & Joachim Weischenfeldt
Martini-Clinic, Prostate Cancer Center, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
Thorsten Schlomm
Department of General Internal Medicine, University of Kiel, Kiel, Germany
Stefan Schreiber
German Cancer Consortium (DKTK), Partner site Berlin, Berlin, Germany
Roland F. Schwarz
Cancer Research Institute, Beth Israel Deaconess Medical Center, Boston, MA, USA
Ralph Scully
University of Pittsburgh, Pittsburgh, PA, USA
Raja Seethala
Department of Ophthalmology and Ocular Genomics Institute, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA
Ayellet V. Segre
Center for Psychiatric Genetics, NorthShore University HealthSystem, Evanston, IL, USA
Subhajit Sengupta
Van Andel Research Institute, Grand Rapids, MI, USA
Hui Shen & Wanding Zhou
Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, University of Tokyo, Tokyo, Japan
Tatsuhiro Shibata, Hirokazu Taniguchi & Tomoko Urushidate
Japan Agency for Medical Research and Development, Tokyo, Japan
Kiyo Shimizu & Takashi Yugawa
Korea University, Seoul, South Korea
Seung Jun Shin & Stefan G. Stark
Murtha Cancer Center, Walter Reed National Military Medical Center, Bethesda, MD, USA
Craig Shriver
Human Genetics, University of Kiel, Kiel, Germany
Reiner Siebert
Department of Oncologic Pathology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA
Sabina Signoretti
Oregon Health and Science University, Portland, OR, USA
Jaclyn Smith
Center for RNA Interference and Noncoding RNA, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Anil K. Sood
Department of Experimental Therapeutics, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Anil K. Sood
Department of Gynecologic Oncology and Reproductive Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Anil K. Sood
University Hospitals Coventry and Warwickshire NHS Trust, Coventry, UK
Sharmila Sothi
Department of Radiation Oncology, Radboud University Nijmegen Medical Centre, Nijmegen, GA, The Netherlands
Paul N. Span
Institute for Genomics and Systems Biology, University of Chicago, Chicago, IL, USA
Jonathan Spring
Clinic for Hematology and Oncology, St.-Antonius-Hospital, Eschweiler, Germany
Peter Staib
Computational and Systems Biology Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA
Stefan G. Stark
University of Iceland, Reykjavik, Iceland
Ólafur Andri Stefánsson
Division of Computational Genomics and Systems Genetics, German Cancer Research Center (DKFZ), Heidelberg, Germany
Oliver Stegle
Dundee Cancer Centre, Ninewells Hospital, Dundee, UK
Alasdair Stenhouse & Alastair M. Thompson
Department for Internal Medicine III, University of Ulm and University Hospital of Ulm, Ulm, Germany
Stephan Stilgenbauer
Institut Curie, INSERM Unit 830, Paris, France
Henk G. Stunnenberg & Anne Vincent-Salomon
Department of Gastroenterology and Hepatology, Yokohama City University Graduate School of Medicine, Kanagawa, Japan
Akihiro Suzuki
Department of Laboratory Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, GA, The Netherlands
Fred Sweep
Division of Cancer Genome Research, German Cancer Research Center (DKFZ), Heidelberg, Germany
Holger Sültmann
Department of General Surgery, Singapore General Hospital, Singapore, Singapore
Benita Kiat Tee Tan
Cancer Science Institute of Singapore, National University of Singapore, Singapore, Singapore
Patrick Tan & Bin Tean Teh
Department of Medical and Clinical Genetics, Genome-Scale Biology Research Program, University of Helsinki, Helsinki, Finland
Tomas J. Tanskanen
East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK
Patrick Tarpey
Irving Institute for Cancer Dynamics, Columbia University, New York, NY, USA
Simon Tavaré
Institute of Molecular and Cell Biology, Singapore, Singapore
Bin Tean Teh
Laboratory of Cancer Epigenome, Division of Medical Science, National Cancer Centre Singapore, Singapore, Singapore
Bin Tean Teh
Universite Lyon, INCa-Synergie, Centre Léon Bérard, Lyon, France
Gilles Thomas
Department of Urology, Mayo Clinic, Rochester, MN, USA
R. Houston Thompson
Royal National Orthopaedic Hospital - Stanmore, Stanmore, Middlesex, UK
Roberto Tirabosco
Department of Biochemistry, Genetics and Immunology, University of Vigo, Vigo, Spain
Marta Tojo
Giovanni Paolo II / I.R.C.C.S. Cancer Institute, Bari, BA, Italy
Stefania Tommasi
Neuroblastoma Genomics, German Cancer Research Center (DKFZ), Heidelberg, Germany
Umut H. Toprak
Fondazione Policlinico Universitario Gemelli IRCCS, Rome, Italy, Rome, Italy
Giampaolo Tortora
University of Verona, Verona, Italy
Giampaolo Tortora
Centre National de Génotypage, CEA - Institute de Génomique, Evry, France
Jörg Tost
CAPHRI Research School, Maastricht University, Maastricht, ER, The Netherlands
David Townend
Department of Biopathology, Centre Léon Bérard, Lyon, France
Isabelle Treilleux
Université Claude Bernard Lyon 1, Villeurbanne, France
Isabelle Treilleux
Core Research for Evolutional Science and Technology (CREST), JST, Tokyo, Japan
Tatsuhiko Tsunoda
Department of Biological Sciences, Laboratory for Medical Science Mathematics, Graduate School of Science, University of Tokyo, Yokohama, Japan
Tatsuhiko Tsunoda
Department of Medical Science Mathematics, Medical Research Institute, Tokyo Medical and Dental University (TMDU), Tokyo, Japan
Tatsuhiko Tsunoda
Cancer Ageing and Somatic Mutation Programme, Wellcome Sanger Institute, Hinxton, UK
Jose M. C. Tubio
University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK
Olga Tucker
Centre for Cancer Research and Cell Biology, Queen’s University, Belfast, UK
Richard Turkington
Breast Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Naoto T. Ueno
Department of Surgery, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Christopher Umbricht
Department of Oncology-Pathology, Science for Life Laboratory, Karolinska Institute, Stockholm, Sweden
Husen M. Umer
School of Cancer Sciences, Faculty of Medicine, University of Southampton, Southampton, UK
Timothy J. Underwood
Department of Gene Technology, Tallinn University of Technology, Tallinn, Estonia
Liis Uusküla-Reimand
Genetics and Genome Biology Program, SickKids Research Institute, The Hospital for Sick Children, Toronto, ON, Canada
Liis Uusküla-Reimand
Departments of Neurosurgery and Hematology and Medical Oncology, Winship Cancer Institute and School of Medicine, Emory University, Atlanta, GA, USA
Erwin G. Van Meir
Department of Clinical and Molecular Medicine, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, Trondheim, Norway
Miguel Vazquez
Argmix Consulting, North Vancouver, BC, Canada
Shankar Vembu
Department of Information Technology, Ghent University, Interuniversitair Micro-Electronica Centrum (IMEC), Ghent, Belgium
Lieven P. C. Verbeke
Nuffield Department of Surgical Sciences, John Radcliffe Hospital, University of Oxford, Oxford, UK
Clare Verrill
Institute of Mathematics and Computer Science, University of Latvia, Riga, LV, Latvia
Juris Viksna
Discipline of Pathology, Sydney Medical School, University of Sydney, Sydney, NSW, Australia
Ricardo E. Vilain
Department of Applied Mathematics and Theoretical Physics, Centre for Mathematical Sciences, University of Cambridge, Cambridge, UK
Ignacio Vázquez-García
Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, USA
Ignacio Vázquez-García & Venkata D. Yellapantula
Department of Statistics, Columbia University, New York, NY, USA
Ignacio Vázquez-García
Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden
Claes Wadelius
School of Electronic and Information Engineering, Xi’an Jiaotong University, Xi’an, China
Jiayin Wang & Kai Ye
Department of Histopathology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK
Anne Y. Warren
Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford, UK
David C. Wedge
Georgia Regents University Cancer Center, Augusta, GA, USA
Paul Weinberger
Wythenshawe Hospital, Manchester, UK
Ian Welch
Department of Genetics, Washington University School of Medicine, St.Louis, MO, USA
Michael C. Wendl
Department of Biological Oceanography, Leibniz Institute of Baltic Sea Research, Rostock, Germany
Johannes Werner
Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK
Justin P. Whalley
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
David A. Wheeler
Thoracic Oncology Laboratory, Mayo Clinic, Rochester, MN, USA
Dennis Wigle
Institute for Genomic Medicine, Nationwide Children’s Hospital, Columbus, OH, USA
Richard K. Wilson
Department of Obstetrics and Gynecology, Division of Gynecologic Oncology, Mayo Clinic, Rochester, MN, USA
Boris Winterhoff
International Institute for Molecular Oncology, Poznań, Poland
Maciej Wiznerowicz
Poznan University of Medical Sciences, Poznań, Poland
Maciej Wiznerowicz
Genomics and Proteomics Core Facility High Throughput Sequencing Unit, German Cancer Research Center (DKFZ), Heidelberg, Germany
Stephan Wolf
NCCS-VARI Translational Research Laboratory, National Cancer Centre Singapore, Singapore, Singapore
Bernice H. Wong
Edison Family Center for Genome Sciences and Systems Biology, Washington University, St. Louis, MO, USA
Winghing Wong
MRC-University of Glasgow Centre for Virus Research, Glasgow, UK
Derek W. Wright
Department of Medical Informatics and Clinical Epidemiology, Division of Bioinformatics and Computational Biology, OHSU Knight Cancer Institute, Oregon Health and Science University, Portland, OR, USA
Guanming Wu
School of Electronic Information and Communications, Huazhong University of Science and Technology, Wuhan, China
Tian Xia
Department of Applied Mathematics and Statistics, Johns Hopkins University, Baltimore, MD, USA
Yanxun Xu
Department of Cancer Genome Informatics, Graduate School of Medicine, Osaka University, Osaka, Japan
Shinichi Yachida
Institute of Computer Science, Heidelberg University, Heidelberg, Germany
Sergei Yakneen
School of Mathematics and Statistics, University of Sydney, Sydney, NSW, Australia
Jean Y. Yang
Ben May Department for Cancer Research, University of Chicago, Chicago, IL, USA
Lixing Yang
Department of Human Genetics, University of Chicago, Chicago, IL, USA
Lixing Yang
Tri-Institutional PhD Program in Computational Biology and Medicine, Weill Cornell Medicine, New York, NY, USA
Xiaotong Yao
The First Affiliated Hospital, Xi’an Jiaotong University, Xi’an, China
Kai Ye
Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Shatin, NT, Hong Kong, China
Jun Yu
Department of Biostatistics, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
Kaixian Yu & Hongtu Zhu
Duke-NUS Medical School, Singapore, Singapore
Willie Yu
Department of Surgery, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China
Yingyan Yu
School of Computing Science, University of Glasgow, Glasgow, UK
Ke Yuan
Division of Orthopaedic Surgery, Oslo University Hospital, Oslo, Norway
Olga Zaikova
Eastern Clinical School, Monash University, Melbourne, VIC, Australia
Nikolajs Zeps
Epworth HealthCare, Richmond, VIC, Australia
Nikolajs Zeps
Department of Biostatistics and Computational Biology, Dana-Farber Cancer Institute and Harvard Medical School, Boston, MA, USA
Cheng-Zhong Zhang
Department of Biomedical Informatics, College of Medicine, The Ohio State University, Columbus, OH, USA
Yan Zhang
The Ohio State University Comprehensive Cancer Center (OSUCCC – James), Columbus, OH, USA
Yan Zhang
The University of Texas School of Biomedical Informatics (SBMI) at Houston, Houston, TX, USA
Zhongming Zhao
Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA
Hongtu Zhu
Department of Biochemistry and Molecular Genetics, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA
Lihua Zou
Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia
Anna deFazio
Department of Pathology, Erasmus Medical Center Rotterdam, Rotterdam, GD, The Netherlands
Carolien H. M. van Deurzen
Division of Molecular Carcinogenesis, The Netherlands Cancer Institute, Amsterdam, CX, The Netherlands
L. van’t Veer
Institute of Molecular Life Sciences and Swiss Institute of Bioinformatics, University of Zurich, Zurich, Switzerland
Christian von Mering

Authors

Ludmil B. Alexandrov
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Jaegil Kim
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Nicholas J. Haradhvala
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Mi Ni Huang
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Alvin Wei Tian Ng
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Yang Wu
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Arnoud Boot
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Kyle R. Covington
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Dmitry A. Gordenin
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Erik N. Bergstrom
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S. M. Ashiqul Islam
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Nuria Lopez-Bigas
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Leszek J. Klimczak
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John R. McPherson
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Sandro Morganella
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Radhakrishnan Sabarinathan
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David A. Wheeler
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Ville Mustonen
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Gad Getz
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Steven G. Rozen
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Michael R. Stratton
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Consortia

PCAWG Mutational Signatures Working Group

Ludmil B. Alexandrov
, Erik N. Bergstrom
, Arnoud Boot
, Paul Boutros
, Kin Chan
, Kyle R. Covington
, Akihiro Fujimoto
, Gad Getz
, Dmitry A. Gordenin
, Nicholas J. Haradhvala
, Mi Ni Huang
, S. M. Ashiqul Islam
, Marat Kazanov
, Jaegil Kim
, Leszek J. Klimczak
, Nuria Lopez-Bigas
, Michael Lawrence
, Iñigo Martincorena
, John R. McPherson
, Sandro Morganella
, Ville Mustonen
, Hidewaki Nakagawa
, Alvin Wei Tian Ng
, Paz Polak
, Stephenie Prokopec
, Steven A. Roberts
, Steven G. Rozen
, Radhakrishnan Sabarinathan
, Natalie Saini
, Tatsuhiro Shibata
, Yuichi Shiraishi
, Michael R. Stratton
, Bin Tean Teh
, Ignacio Vázquez-García
, David A. Wheeler
, Yang Wu
, Fouad Yousif
& Willie Yu

PCAWG Consortium

Lauri A. Aaltonen
, Federico Abascal
, Adam Abeshouse
, Hiroyuki Aburatani
, David J. Adams
, Nishant Agrawal
, Keun Soo Ahn
, Sung-Min Ahn
, Hiroshi Aikata
, Rehan Akbani
, Kadir C. Akdemir
, Hikmat Al-Ahmadie
, Sultan T. Al-Sedairy
, Fatima Al-Shahrour
, Malik Alawi
, Monique Albert
, Kenneth Aldape
, Ludmil B. Alexandrov
, Adrian Ally
, Kathryn Alsop
, Eva G. Alvarez
, Fernanda Amary
, Samirkumar B. Amin
, Brice Aminou
, Ole Ammerpohl
, Matthew J. Anderson
, Yeng Ang
, Davide Antonello
, Pavana Anur
, Samuel Aparicio
, Elizabeth L. Appelbaum
, Yasuhito Arai
, Axel Aretz
, Koji Arihiro
, Shun-ichi Ariizumi
, Joshua Armenia
, Laurent Arnould
, Sylvia Asa
, Yassen Assenov
, Gurnit Atwal
, Sietse Aukema
, J. Todd Auman
, Miriam R. R. Aure
, Philip Awadalla
, Marta Aymerich
, Gary D. Bader
, Adrian Baez-Ortega
, Matthew H. Bailey
, Peter J. Bailey
, Miruna Balasundaram
, Saianand Balu
, Pratiti Bandopadhayay
, Rosamonde E. Banks
, Stefano Barbi
, Andrew P. Barbour
, Jonathan Barenboim
, Jill Barnholtz-Sloan
, Hugh Barr
, Elisabet Barrera
, John Bartlett
, Javier Bartolome
, Claudio Bassi
, Oliver F. Bathe
, Daniel Baumhoer
, Prashant Bavi
, Stephen B. Baylin
, Wojciech Bazant
, Duncan Beardsmore
, Timothy A. Beck
, Sam Behjati
, Andreas Behren
, Beifang Niu
, Cindy Bell
, Sergi Beltran
, Christopher Benz
, Andrew Berchuck
, Anke K. Bergmann
, Erik N. Bergstrom
, Benjamin P. Berman
, Daniel M. Berney
, Stephan H. Bernhart
, Rameen Beroukhim
, Mario Berrios
, Samantha Bersani
, Johanna Bertl
, Miguel Betancourt
, Vinayak Bhandari
, Shriram G. Bhosle
, Andrew V. Biankin
, Matthias Bieg
, Darell Bigner
, Hans Binder
, Ewan Birney
, Michael Birrer
, Nidhan K. Biswas
, Bodil Bjerkehagen
, Tom Bodenheimer
, Lori Boice
, Giada Bonizzato
, Johann S. De Bono
, Arnoud Boot
, Moiz S. Bootwalla
, Ake Borg
, Arndt Borkhardt
, Keith A. Boroevich
, Ivan Borozan
, Christoph Borst
, Marcus Bosenberg
, Mattia Bosio
, Jacqueline Boultwood
, Guillaume Bourque
, Paul C. Boutros
, G. Steven Bova
, David T. Bowen
, Reanne Bowlby
, David D. L. Bowtell
, Sandrine Boyault
, Rich Boyce
, Jeffrey Boyd
, Alvis Brazma
, Paul Brennan
, Daniel S. Brewer
, Arie B. Brinkman
, Robert G. Bristow
, Russell R. Broaddus
, Jane E. Brock
, Malcolm Brock
, Annegien Broeks
, Angela N. Brooks
, Denise Brooks
, Benedikt Brors
, Søren Brunak
, Timothy J. C. Bruxner
, Alicia L. Bruzos
, Alex Buchanan
, Ivo Buchhalter
, Christiane Buchholz
, Susan Bullman
, Hazel Burke
, Birgit Burkhardt
, Kathleen H. Burns
, John Busanovich
, Carlos D. Bustamante
, Adam P. Butler
, Atul J. Butte
, Niall J. Byrne
, Anne-Lise Børresen-Dale
, Samantha J. Caesar-Johnson
, Andy Cafferkey
, Declan Cahill
, Claudia Calabrese
, Carlos Caldas
, Fabien Calvo
, Niedzica Camacho
, Peter J. Campbell
, Elias Campo
, Cinzia Cantù
, Shaolong Cao
, Thomas E. Carey
, Joana Carlevaro-Fita
, Rebecca Carlsen
, Ivana Cataldo
, Mario Cazzola
, Jonathan Cebon
, Robert Cerfolio
, Dianne E. Chadwick
, Dimple Chakravarty
, Don Chalmers
, Calvin Wing Yiu Chan
, Kin Chan
, Michelle Chan-Seng-Yue
, Vishal S. Chandan
, David K. Chang
, Stephen J. Chanock
, Lorraine A. Chantrill
, Aurélien Chateigner
, Nilanjan Chatterjee
, Kazuaki Chayama
, Hsiao-Wei Chen
, Jieming Chen
, Ken Chen
, Yiwen Chen
, Zhaohong Chen
, Andrew D. Cherniack
, Jeremy Chien
, Yoke-Eng Chiew
, Suet-Feung Chin
, Juok Cho
, Sunghoon Cho
, Jung Kyoon Choi
, Wan Choi
, Christine Chomienne
, Zechen Chong
, Su Pin Choo
, Angela Chou
, Angelika N. Christ
, Elizabeth L. Christie
, Eric Chuah
, Carrie Cibulskis
, Kristian Cibulskis
, Sara Cingarlini
, Peter Clapham
, Alexander Claviez
, Sean Cleary
, Nicole Cloonan
, Marek Cmero
, Colin C. Collins
, Ashton A. Connor
, Susanna L. Cooke
, Colin S. Cooper
, Leslie Cope
, Vincenzo Corbo
, Matthew G. Cordes
, Stephen M. Cordner
, Isidro Cortés-Ciriano
, Kyle Covington
, Prue A. Cowin
, Brian Craft
, David Craft
, Chad J. Creighton
, Yupeng Cun
, Erin Curley
, Ioana Cutcutache
, Karolina Czajka
, Bogdan Czerniak
, Rebecca A. Dagg
, Ludmila Danilova
, Maria Vittoria Davi
, Natalie R. Davidson
, Helen Davies
, Ian J. Davis
, Brandi N. Davis-Dusenbery
, Kevin J. Dawson
, Francisco M. De La Vega
, Ricardo De Paoli-Iseppi
, Timothy Defreitas
, Angelo P. Dei Tos
, Olivier Delaneau
, John A. Demchok
, Jonas Demeulemeester
, German M. Demidov
, Deniz Demircioğlu
, Nening M. Dennis
, Robert E. Denroche
, Stefan C. Dentro
, Nikita Desai
, Vikram Deshpande
, Amit G. Deshwar
, Christine Desmedt
, Jordi Deu-Pons
, Noreen Dhalla
, Neesha C. Dhani
, Priyanka Dhingra
, Rajiv Dhir
, Anthony DiBiase
, Klev Diamanti
, Li Ding
, Shuai Ding
, Huy Q. Dinh
, Luc Dirix
, HarshaVardhan Doddapaneni
, Nilgun Donmez
, Michelle T. Dow
, Ronny Drapkin
, Oliver Drechsel
, Ruben M. Drews
, Serge Serge
, Tim Dudderidge
, Ana Dueso-Barroso
, Andrew J. Dunford
, Michael Dunn
, Lewis Jonathan Dursi
, Fraser R. Duthie
, Ken Dutton-Regester
, Jenna Eagles
, Douglas F. Easton
, Stuart Edmonds
, Paul A. Edwards
, Sandra E. Edwards
, Rosalind A. Eeles
, Anna Ehinger
, Juergen Eils
, Roland Eils
, Adel El-Naggar
, Matthew Eldridge
, Kyle Ellrott
, Serap Erkek
, Georgia Escaramis
, Shadrielle M. G. Espiritu
, Xavier Estivill
, Dariush Etemadmoghadam
, Jorunn E. Eyfjord
, Bishoy M. Faltas
, Daiming Fan
, Yu Fan
, William C. Faquin
, Claudiu Farcas
, Matteo Fassan
, Aquila Fatima
, Francesco Favero
, Nodirjon Fayzullaev
, Ina Felau
, Sian Fereday
, Martin L. Ferguson
, Vincent Ferretti
, Lars Feuerbach
, Matthew A. Field
, J. Lynn Fink
, Gaetano Finocchiaro
, Cyril Fisher
, Matthew W. Fittall
, Anna Fitzgerald
, Rebecca C. Fitzgerald
, Adrienne M. Flanagan
, Neil E. Fleshner
, Paul Flicek
, John A. Foekens
, Kwun M. Fong
, Nuno A. Fonseca
, Christopher S. Foster
, Natalie S. Fox
, Michael Fraser
, Scott Frazer
, Milana Frenkel-Morgenstern
, William Friedman
, Joan Frigola
, Catrina C. Fronick
, Akihiro Fujimoto
, Masashi Fujita
, Masashi Fukayama
, Lucinda A. Fulton
, Robert S. Fulton
, Mayuko Furuta
, P. Andrew Futreal
, Anja Füllgrabe
, Stacey B. Gabriel
, Steven Gallinger
, Carlo Gambacorti-Passerini
, Jianjiong Gao
, Shengjie Gao
, Levi Garraway
, Øystein Garred
, Erik Garrison
, Dale W. Garsed
, Nils Gehlenborg
, Josep L. L. Gelpi
, Joshy George
, Daniela S. Gerhard
, Clarissa Gerhauser
, Jeffrey E. Gershenwald
, Mark Gerstein
, Moritz Gerstung
, Gad Getz
, Mohammed Ghori
, Ronald Ghossein
, Nasra H. Giama
, Richard A. Gibbs
, Bob Gibson
, Anthony J. Gill
, Pelvender Gill
, Dilip D. Giri
, Dominik Glodzik
, Vincent J. Gnanapragasam
, Maria Elisabeth Goebler
, Mary J. Goldman
, Carmen Gomez
, Santiago Gonzalez
, Abel Gonzalez-Perez
, Dmitry A. Gordenin
, James Gossage
, Kunihito Gotoh
, Ramaswamy Govindan
, Dorthe Grabau
, Janet S. Graham
, Robert C. Grant
, Anthony R. Green
, Eric Green
, Liliana Greger
, Nicola Grehan
, Sonia Grimaldi
, Sean M. Grimmond
, Robert L. Grossman
, Adam Grundhoff
, Gunes Gundem
, Qianyun Guo
, Manaswi Gupta
, Shailja Gupta
, Ivo G. Gut
, Marta Gut
, Jonathan Göke
, Gavin Ha
, Andrea Haake
, David Haan
, Siegfried Haas
, Kerstin Haase
, James E. Haber
, Nina Habermann
, Faraz Hach
, Syed Haider
, Natsuko Hama
, Freddie C. Hamdy
, Anne Hamilton
, Mark P. Hamilton
, Leng Han
, George B. Hanna
, Martin Hansmann
, Nicholas J. Haradhvala
, Olivier Harismendy
, Ivon Harliwong
, Arif O. Harmanci
, Eoghan Harrington
, Takanori Hasegawa
, David Haussler
, Steve Hawkins
, Shinya Hayami
, Shuto Hayashi
, D. Neil Hayes
, Stephen J. Hayes
, Nicholas K. Hayward
, Steven Hazell
, Yao He
, Allison P. Heath
, Simon C. Heath
, David Hedley
, Apurva M. Hegde
, David I. Heiman
, Michael C. Heinold
, Zachary Heins
, Lawrence E. Heisler
, Eva Hellstrom-Lindberg
, Mohamed Helmy
, Seong Gu Heo
, Austin J. Hepperla
, José María Heredia-Genestar
, Carl Herrmann
, Peter Hersey
, Julian M. Hess
, Holmfridur Hilmarsdottir
, Jonathan Hinton
, Satoshi Hirano
, Nobuyoshi Hiraoka
, Katherine A. Hoadley
, Asger Hobolth
, Ermin Hodzic
, Jessica I. Hoell
, Steve Hoffmann
, Oliver Hofmann
, Andrea Holbrook
, Aliaksei Z. Holik
, Michael A. Hollingsworth
, Oliver Holmes
, Robert A. Holt
, Chen Hong
, Eun Pyo Hong
, Jongwhi H. Hong
, Gerrit K. Hooijer
, Henrik Hornshøj
, Fumie Hosoda
, Yong Hou
, Volker Hovestadt
, William Howat
, Alan P. Hoyle
, Ralph H. Hruban
, Jianhong Hu
, Taobo Hu
, Xing Hua
, Kuan-lin Huang
, Mei Huang
, Mi Ni Huang
, Vincent Huang
, Yi Huang
, Wolfgang Huber
, Thomas J. Hudson
, Michael Hummel
, Jillian A. Hung
, David Huntsman
, Ted R. Hupp
, Jason Huse
, Matthew R. Huska
, Barbara Hutter
, Carolyn M. Hutter
, Daniel Hübschmann
, Christine A. Iacobuzio-Donahue
, Charles David Imbusch
, Marcin Imielinski
, Seiya Imoto
, William B. Isaacs
, Keren Isaev
, Shumpei Ishikawa
, Murat Iskar
, S. M. Ashiqul Islam
, Michael Ittmann
, Sinisa Ivkovic
, Jose M. G. Izarzugaza
, Jocelyne Jacquemier
, Valerie Jakrot
, Nigel B. Jamieson
, Gun Ho Jang
, Se Jin Jang
, Joy C. Jayaseelan
, Reyka Jayasinghe
, Stuart R. Jefferys
, Karine Jegalian
, Jennifer L. Jennings
, Seung-Hyup Jeon
, Lara Jerman
, Yuan Ji
, Wei Jiao
, Peter A. Johansson
, Amber L. Johns
, Jeremy Johns
, Rory Johnson
, Todd A. Johnson
, Clemency Jolly
, Yann Joly
, Jon G. Jonasson
, Corbin D. Jones
, David R. Jones
, David T. W. Jones
, Nic Jones
, Steven J. M. Jones
, Jos Jonkers
, Young Seok Ju
, Hartmut Juhl
, Jongsun Jung
, Malene Juul
, Randi Istrup Juul
, Sissel Juul
, Natalie Jäger
, Rolf Kabbe
, Andre Kahles
, Abdullah Kahraman
, Vera B. Kaiser
, Hojabr Kakavand
, Sangeetha Kalimuthu
, Christof von Kalle
, Koo Jeong Kang
, Katalin Karaszi
, Beth Karlan
, Rosa Karlić
, Dennis Karsch
, Katayoon Kasaian
, Karin S. Kassahn
, Hitoshi Katai
, Mamoru Kato
, Hiroto Katoh
, Yoshiiku Kawakami
, Jonathan D. Kay
, Stephen H. Kazakoff
, Marat D. Kazanov
, Maria Keays
, Electron Kebebew
, Richard F. Kefford
, Manolis Kellis
, James G. Kench
, Catherine J. Kennedy
, Jules N. A. Kerssemakers
, David Khoo
, Vincent Khoo
, Narong Khuntikeo
, Ekta Khurana
, Helena Kilpinen
, Hark Kyun Kim
, Hyung-Lae Kim
, Hyung-Yong Kim
, Hyunghwan Kim
, Jaegil Kim
, Jihoon Kim
, Jong K. Kim
, Youngwook Kim
, Tari A. King
, Wolfram Klapper
, Kortine Kleinheinz
, Leszek J. Klimczak
, Stian Knappskog
, Michael Kneba
, Bartha M. Knoppers
, Youngil Koh
, Jan Komorowski
, Daisuke Komura
, Mitsuhiro Komura
, Gu Kong
, Marcel Kool
, Jan O. Korbel
, Viktoriya Korchina
, Andrey Korshunov
, Michael Koscher
, Roelof Koster
, Zsofia Kote-Jarai
, Antonios Koures
, Milena Kovacevic
, Barbara Kremeyer
, Helene Kretzmer
, Markus Kreuz
, Savitri Krishnamurthy
, Dieter Kube
, Kiran Kumar
, Pardeep Kumar
, Sushant Kumar
, Yogesh Kumar
, Ritika Kundra
, Kirsten Kübler
, Ralf Küppers
, Jesper Lagergren
, Phillip H. Lai
, Peter W. Laird
, Sunil R. Lakhani
, Christopher M. Lalansingh
, Emilie Lalonde
, Fabien C. Lamaze
, Adam Lambert
, Eric Lander
, Pablo Landgraf
, Luca Landoni
, Anita Langerød
, Andrés Lanzós
, Denis Larsimont
, Erik Larsson
, Mark Lathrop
, Loretta M. S. Lau
, Chris Lawerenz
, Rita T. Lawlor
, Michael S. Lawrence
, Alexander J. Lazar
, Ana Mijalkovic Lazic
, Xuan Le
, Darlene Lee
, Donghoon Lee
, Eunjung Alice Lee
, Hee Jin Lee
, Jake June-Koo Lee
, Jeong-Yeon Lee
, Juhee Lee
, Ming Ta Michael Lee
, Henry Lee-Six
, Kjong-Van Lehmann
, Hans Lehrach
, Dido Lenze
, Conrad R. Leonard
, Daniel A. Leongamornlert
, Ignaty Leshchiner
, Louis Letourneau
, Ivica Letunic
, Douglas A. Levine
, Lora Lewis
, Tim Ley
, Chang Li
, Constance H. Li
, Haiyan Irene Li
, Jun Li
, Lin Li
, Shantao Li
, Siliang Li
, Xiaobo Li
, Xiaotong Li
, Xinyue Li
, Yilong Li
, Han Liang
, Sheng-Ben Liang
, Peter Lichter
, Pei Lin
, Ziao Lin
, W. M. Linehan
, Ole Christian Lingjærde
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& Christian von Mering

Contributions

The ICGC and TCGA contributed collectively to this work under the guidance of PCAWG Steering and Executive Committees, and the Ethics and Legal Working Group. The International Cancer Genome Consortium and TCGA tumour specific providers provided tumour and matched non-tumour samples, and the PCAWG Technical Working Group, the PCAWG Quality Control Working Group and the PCAWG Novel Somatic Mutation Calling Methods Working Group provided standardized mutation calls for the 2,780 PCAWG whole genomes. G.G., S.G.R. and M.R.S. were project leaders; L.B.A., G.G., S.G.R. and M.R.S. obtained funding for this study; L.B.A., J.K., N.J.H., G.G., S.G.R. and M.R.S. designed this study; M.N.H., A.W.T.N., A.B., E.N.B., J.R.M. and S.G.R. collected and prepared data for analysis; L.B.A., J.K., E.N.B. and S.M.A.I. created mutational signature analysis software; L.B.A., J.K., N.J.H., A.W.T.N., A.B., K.R.C., D.A.G., N.L.-B., L.J.K., S.M., R.S., D.A.W., V.M., G.G., S.G.R. and M.R.S. analysed data and reviewed results; L.B.A., J.K., N.J.H., G.G., S.G.R. and M.R.S. wrote the paper; L.B.A., J.K., N.J.H., M.N.H. and A.W.T.N. created figures; and Y.W. and S.G.R. generated synthetic data and benchmarked signature analysis software.

Corresponding authors

Correspondence to Steven G. Rozen or Michael R. Stratton.

Ethics declarations

Competing interests

G.G. receives research funds from IBM and Pharmacyclics and is an inventor on patent applications related to MuTect, ABSOLUTE, MutSig, MSMuTect and POLYSOLVER. All the other authors have no competing interests.

Additional information

Peer review information Nature thanks Arul Chinnaiyan and the other, anonymous, reviewer(s) for their contribution to the peer review of this work.

Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Extended data figures and tables

Extended Data Fig. 1 Histogram of the number of signatures attributed in each of 2,780 PCAWG samples by SigProfiler and SignatureAnalyzer.

Hypermutated tumours and melanomas (156) are listed at syn11738314.

Extended Data Fig. 2 Comparisons between results of SigProfiler and SignatureAnalyzer.

a, b, Comparison of the attributions for corresponding SigProfiler (a) and SignatureAnalyzer (b) signatures. Each one of the SBS signatures extracted by SigProfiler and SignatureAnalyzer was paired with the signature of highest cosine similarity in the extraction by the other method (if one with >0.85 cosine similarity exists). The first column of the plot corresponds to the fraction of mutations assigned by one method (summed across samples and mutation types) that was also assigned by the other method. The remaining mutations were then redistributed to the other signatures in the extraction, weighted by their relative probabilities of having been generated by each signature and the resulting fraction of mutations was then plotted. Signatures on the x axis are shown only if they contribute at least a 0.1 fraction of mutations to at least one signature on the y axis. c, d, Cosine similarities between SigProfiler and SignatureAnalyzer DBS (c) and indel (d) signatures. Brown nodes represent SigProfiler signatures; green nodes represent SignatureAnalyzer signatures. Matches with cosine similarities > 0.8 are shown as edges; the width of the edge indicates the strength of the similarity. The locations of the nodes have no meaning. Signatures with no matches of >0.8 cosine similarity are shown below. SigProfiler ID15 and ID17 were extracted from data that were not analysed by SignatureAnalyzer. The suffix ‘P’ on a SignatureAnalyzer signature name indicates a signature extracted from non-hypermutated, non-melanoma tumours. The suffix ‘S’ on a SignatureAnalyzer signature name indicates a signature extracted from hypermutated or melanoma tumours.

Extended Data Fig. 3 SignatureAnalyzer reference signatures.

The classifications of each mutation type (SBS, 96 classes; DBS, 78 classes; and indels, 83 classes) are described in the main text.

Extended Data Fig. 4 The number of SBS mutations attributed to each mutational signature for each cancer type over the PCAWG tumours by SignatureAnalyzer.

Conventions are as in Fig. 3; see this figure for explanation.

Extended Data Fig. 5 The number of SBS mutations attributed to each mutational signature to each cancer type over the complete set of PCAWG and non-PCAWG cancer samples analysed by SigProfiler.

Conventions are as in Fig. 3; see this figure for explanation.

Extended Data Fig. 6 Associations between SBS, DBS and indel signature activities for SigProfiler and SignatureAnalyzer.

a, b, Each node represents an SBS (light green), DBS (dark green) or indel (black) signature. Any two signatures with sample attributions that significantly correlated with R² > 0.3 (SigProfiler) (a) or > 0.5 (SignatureAnalyzer) (b) are connected by edges. Edge widths are proportional to the strength of the correlation. Signatures with no significant correlation to any other signature above the relevant threshold are not shown. Signature locations are fit for display purposes only, and do not indicate similarity.

Extended Data Fig. 7 Mutational signatures extracted from the COMPOSITE feature set consisting of the concatenation of SBSs in pentanucleotide context, DBSs and indels.

For each of the 4 COMPOSITE mutational signatures shown, the top panel shows the SBS signature in pentanucleotide context (1,536 mutation classes) after being collapsed to 96 SBS mutation classes, the middle panel is the co-extracted DBS signature and the bottom panel is the co-extracted indel signature. There are similarities between the DBS portion of Composite-4 and DBS2, and between the indel portion of Composite-4 and ID3; other similarities are noted in the figure.

Extended Data Fig. 8 SigProfiler signature extraction and attribution.

A full description is provided in Supplementary Note 2. a, Procedure for extracting (discovering) mutational signatures. Step A, apply the approach to a set of samples D; initially D contains all samples (that is, D = M). This step has previously been described in detail¹⁷. Step B, solution evaluation and re-iteration. Extracted mutational signatures and their activities in individual samples are saved into a set (S). The activity of any signature that does not increase the cosine similarity of a sample by > 0.01 was removed from the sample (assigned a value of 0). Step A is repeated for all samples for which the identified signatures do not explain their patterns (cosine similarity < 0.95). The algorithm continues to step C when step A cannot find any stable signatures. Step C, clustering of mutational signatures. Hierarchical consensus clustering was applied to the set S to derive the consensus mutational signatures across the set of samples M. b, Attribution of activities of mutational signatures in samples.

Extended Data Table 1 The number of DBSs is proportional to the number of SBSs, with few exceptions

Full size table

Extended Data Table 2 Numbers of insertion and deletion mutations due to ID1, ID2 and all other indel signatures in hypermuted and non-hypermutated tumours

Full size table

Supplementary information

Supplementary Table

This file contains Supplementary Table 1: Summary of datasets used in this paper.

Reporting Summary

Supplementary Information

Supplementary Note 1: Members of the TCGA/ICGC Pan-Cancer Analysis of Whole Genomes Network.

Supplementary Information

Supplementary Note 2: Additional methods details.

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Alexandrov, L.B., Kim, J., Haradhvala, N.J. et al. The repertoire of mutational signatures in human cancer. Nature 578, 94–101 (2020). https://doi.org/10.1038/s41586-020-1943-3

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Received: 18 May 2018
Accepted: 18 November 2019
Published: 05 February 2020
Issue Date: 06 February 2020
DOI: https://doi.org/10.1038/s41586-020-1943-3

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Subjects

Abstract

Main

Mutational signature analysis

Single-base substitution signatures

Doublet-base substitution signatures

Small insertion-and-deletion signatures

Correlations with age

Discussion

Methods

Analysis of mutational signatures with SigProfiler

Analysis of mutational signatures with SignatureAnalyzer

Application of SigProfiler and SignatureAnalyzer to synthetic data

Analysis of clustered mutational signatures

Better separation compared to COSMIC v.2 signatures

Correlations of mutational signature activity with age

Reporting summary

Data availability

Code availability

Change history

25 January 2023

References

Acknowledgements

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Authors and Affiliations

Consortia

PCAWG Mutational Signatures Working Group

PCAWG Consortium

Contributions

Corresponding authors

Ethics declarations

Competing interests

Additional information

Extended data figures and tables

Supplementary information

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