Genome informatics

Genome informatics is the field in which computer and statistical techniques are applied to derive biological information from genome sequences. Genome informatics includes methods to analyse DNA sequence information and to predict protein sequence and structure.

Featured

News & Views | 02 February 2023

The repertoire of mutational signatures in childhood cancer

Nature Cancer, 1-2

Latest Research and Reviews

Research
06 February 2023 | Open Access

Machine learning classifiers predict key genomic and evolutionary traits across the kingdoms of life
- Logan Hallee
- & Bohdan B. Khomtchouk
Scientific Reports 13, 2088
Research
03 February 2023 | Open Access

De novo transcriptome assembly from the nodal root growth zone of hydrated and water-deficit stressed maize inbred line FR697
- Sidharth Sen
- , Shannon K. King
- & Trupti Joshi
Scientific Reports 13, 1960
Research
26 January 2023 | Open Access

Accuracy of haplotype estimation and whole genome imputation affects complex trait analyses in complex biobanks

An analysis of phasing and imputation performances using iPSYCH consortium data across multiple methods and data integration protocols provides a useful framework in designing workflows to construct next-generation biobanks or conduct biobank-scale analyses.
- Vivek Appadurai
- , Jonas Bybjerg-Grauholm
- & Andrew J. Schork
Communications Biology 6, 101
Research | 19 January 2023

Jasmine and Iris: population-scale structural variant comparison and analysis

An optimized pipeline for improved inference and analysis of structural variants (SVs) has been developed, which uses Iris for refining breakpoints and sequences, and Jasmine for comparing SV calls at population scale.
- Melanie Kirsche
- , Gautam Prabhu
- & Michael C. Schatz
Nature Methods, 1-10
Research
18 January 2023 | Open Access

The person-to-person transmission landscape of the gut and oral microbiomes

Data from more than 9,700 human stool and oral metagenomes has been used to decipher the strain transmission patterns of the human microbiome from mother to infant, within households and within populations.
- Mireia Valles-Colomer
- , Aitor Blanco-Míguez
- & Nicola Segata
Nature 614, 125-135
Research
17 January 2023 | Open Access

Deciphering the exact breakpoints of structural variations using long sequencing reads with DeBreak

Long-read sequencing is promising for the detection of structural variants (SVs), which requires algorithms with high sensitivity and precision. Here, the authors develop DeBreak, an algorithm for comprehensive and accurate SV detection in long-read sequencing data across different platforms, which outperforms other SV callers.
- Yu Chen
- , Amy Y. Wang
- & Zechen Chong
Nature Communications 14, 283

All Research & Reviews

News and Comment

News & Views | 02 February 2023

The repertoire of mutational signatures in childhood cancer

Somatic mutations in cancer genomes are caused by multiple mutational processes, each generating characteristic mutational signatures. Our systematic mutational signature analysis of single base substitutions and small insertions and deletions in pediatric cancers indicates that the contribution of signatures of homologous recombination repair defect is limited and identifies a leukemia-specific signature.

Nature Cancer, 1-2
Research Highlights
01 February 2023 | Open Access

The fungal mycobiome: a new hallmark of cancer revealed by pan-cancer analyses
- Zhi Zong
- , Fangfang Zhou
- & Long Zhang
Signal Transduction and Targeted Therapy 8, 50
Editorial | 12 January 2023

Method of the Year 2022: long-read sequencing

Long-read sequencing powers a more complete reading of genomic information.

Nature Methods 20, 1
Comments & Opinion | 12 January 2023

Long-read metagenomics paves the way toward a complete microbial tree of life

Long-read sequencing has made closed microbial genomes a routine task, and the dramatic increase in quality and quantity now paves the way to a complete microbial tree of life through genome-centric metagenomics.
- Mads Albertsen
Nature Methods 20, 30-31
Comments & Opinion | 12 January 2023

Comprehensive variant discovery in the era of complete human reference genomes

Advances in long-read sequencing technologies have broadened our understanding of genetic variation in the human population, uncovered new complex structural variants and offered an opportunity to elucidate new variant associations with disease.
- Monika Cechova
- & Karen H. Miga
Nature Methods 20, 17-19
Comments & Opinion | 11 January 2023

ParseCNV2: a versatile and integrated tool for copy number variation association studies
- Tze Y. Lim
- , Miguel Verbitsky
- & Simone Sanna-Cherchi
European Journal of Human Genetics, 1-3

All News & Comment

Genome informatics

Featured

The repertoire of mutational signatures in childhood cancer

Latest Research and Reviews

Machine learning classifiers predict key genomic and evolutionary traits across the kingdoms of life

De novo transcriptome assembly from the nodal root growth zone of hydrated and water-deficit stressed maize inbred line FR697

Accuracy of haplotype estimation and whole genome imputation affects complex trait analyses in complex biobanks

Jasmine and Iris: population-scale structural variant comparison and analysis

The person-to-person transmission landscape of the gut and oral microbiomes

Deciphering the exact breakpoints of structural variations using long sequencing reads with DeBreak

News and Comment

The repertoire of mutational signatures in childhood cancer

The fungal mycobiome: a new hallmark of cancer revealed by pan-cancer analyses

Method of the Year 2022: long-read sequencing

Long-read metagenomics paves the way toward a complete microbial tree of life

Comprehensive variant discovery in the era of complete human reference genomes

ParseCNV2: a versatile and integrated tool for copy number variation association studies

Search

Quick links

Genome informatics

Featured

Related Subjects

Latest Research and Reviews

News and Comment

Search

Quick links