Spotlight |
Featured
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Letter
| Open AccessSequence analysis of mutations and translocations across breast cancer subtypes
This paper reports one of the largest breast cancer whole-exome and whole-genome sequencing efforts so far, identifying previously unknown recurrent mutations in CBFB, deletions of RUNX1 and recurrent MAGI1–AKT3 fusion; the fusion suggests that the use of ATP-competitive AKT inhibitors should be evaluated in clinical trials.
- Shantanu Banerji
- , Kristian Cibulskis
- & Matthew Meyerson
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News |
'Hippie chimp' genome sequenced
Genetic sequence could solve mystery of why bonobos are more peaceful than other chimpanzees.
- Ewen Callaway
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Letter |
Analysis of Plasmodium falciparum diversity in natural infections by deep sequencing
Next-generation sequencing is used here to analyse Plasmodium falciparum genome variation directly from clinical blood samples, as well as cultured isolates, from Africa, Asia and Oceania.
- Magnus Manske
- , Olivo Miotto
- & Dominic P. Kwiatkowski
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Research Highlights |
Sequencing spots tumour cells
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News |
RNA studies under fire
High-profile results challenged over statistical analysis of sequence data.
- Erika Check Hayden
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News Q&A |
Next-generation genome sequencers compared
Three main platforms compete in head-to-head battle.
- Erika Check Hayden
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News |
Screen uncovers hidden ingredients of Chinese medicine
Genetic audit reveals that some traditional remedies contain endangered animals and toxic plants.
- Ewen Callaway
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News |
Roche chases stake in medical sequencing
Biotech firm Illumina continues to resist takeover — but analysts suggest that a merger is inevitable.
- Erika Check Hayden
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Letter |
The anti-Shine–Dalgarno sequence drives translational pausing and codon choice in bacteria
Internal Shine–Dalgarno-like sequences in bacterial messenger RNA determine the elongation rate of protein synthesis and synonymous codon usage.
- Gene-Wei Li
- , Eugene Oh
- & Jonathan S. Weissman
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News |
Gorilla joins the genome club
Sequencing of gorilla genome adds to understanding of our evolutionary path
- Kerri Smith
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Letter
| Open AccessSequencing of neuroblastoma identifies chromothripsis and defects in neuritogenesis genes
Whole-genome sequencing of neuroblastoma, a childhood tumour of the nervous system, shows that chromothripsis (a local shredding of chromosomes) and mutations in genes regulating neurite growth are associated with the most aggressive tumours.
- Jan J. Molenaar
- , Jan Koster
- & Rogier Versteeg
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News |
Nanopore genome sequencer makes its debut
Technique promises it will produce a human genome in 15 minutes.
- Erika Check Hayden
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News |
Sequencing set to alter clinical landscape
Access to whole genomes shifts potential for diagnosis, but poses challenges for doctors and regulators.
- Erika Check Hayden
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Letter |
DNase I sensitivity QTLs are a major determinant of human expression variation
In human lymphoblastoid cell lines, 8,902 loci were identified at which genetic variation is significantly associated with local DNase I sensitivity; these variants are responsible for a large fraction of expression quantitative trait loci.
- Jacob F. Degner
- , Athma A. Pai
- & Jonathan K. Pritchard
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News |
Norway to bring cancer-gene tests to the clinic
A pilot programme will use latest tumour-sequencing techniques to help guide cancer care.
- Ewen Callaway
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Research Highlights |
Sequencing diagnoses disease
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Letter
| Open AccessClonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing
The sequencing of AML genomes of eight patients before and after relapse reveals two major patterns of clonal evolution, with chemotherapy appearing to have a role in both patterns.
- Li Ding
- , Timothy J. Ley
- & John F. DiPersio
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News |
Funds dedicated to personalized genetics
NIH aims to push genome-sequencing into mainstream medicine.
- Susan Young
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Article
| Open AccessThe genome of Tetranychus urticae reveals herbivorous pest adaptations
The genome of the spider mite Tetranychus urticae is sequenced, providing insights into its polyphagous feeding, silk production, hormonal repertoire and reduced Hox cluster.
- Miodrag Grbić
- , Thomas Van Leeuwen
- & Yves Van de Peer
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Letter
| Open AccessThe Medicago genome provides insight into the evolution of rhizobial symbioses
Sequencing of Medicago truncatula, a model organism of legume biology, shows that genome duplications had a role in the evolution of endosymbiotic nitrogen fixation.
- Nevin D. Young
- , Frédéric Debellé
- & Bruce A. Roe
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News |
Research cuts hit the DNA business
Makers of sequencing machines hope for profits in the clinic.
- Erika Check Hayden
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Letter
| Open AccessGenome sequencing reveals insights into physiology and longevity of the naked mole rat
- Eun Bae Kim
- , Xiaodong Fang
- & Vadim N. Gladyshev
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News Feature |
Human genetics: Genomes on prescription
The first clinical uses of whole-genome sequencing show just how challenging it can be.
- Brendan Maher
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News |
Aboriginal genome analysis comes to grips with ethics
Sequencing effort provides a model for future studies of museum samples.
- Ewen Callaway
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News |
First Aboriginal genome sequenced
1920s hair sample reveals Aboriginal Australians' explorer origins.
- Ewen Callaway
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Article |
Deep sequencing reveals 50 novel genes for recessive cognitive disorders
- Hossein Najmabadi
- , Hao Hu
- & H. Hilger Ropers
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Letter
| Open AccessThe genome sequence of Atlantic cod reveals a unique immune system
- Bastiaan Star
- , Alexander J. Nederbragt
- & Kjetill S. Jakobsen
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News |
Genome giant offers data service
Chinese sequencing institute launches remote computing networks to crunch DNA data.
- Ewen Callaway
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News |
Chip chips away at the cost of a genome
Ion-sensing method offers cheap sequencing in record time.
- Gwyneth Dickey Zakaib
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Article
| Open AccessAn integrated semiconductor device enabling non-optical genome sequencing
- Jonathan M. Rothberg
- , Wolfgang Hinz
- & James Bustillo
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Letter |
Inference of human population history from individual whole-genome sequences
- Heng Li
- & Richard Durbin
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News |
Genome study solves twins' mystery condition
Sequencing ends years of speculation over children's rare disorder.
- Erika Check Hayden
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Letter
| Open AccessWhole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia
- Xose S. Puente
- , Magda Pinyol
- & Elías Campo
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Letter |
Determinants of nucleosome organization in primary human cells
- Anton Valouev
- , Steven M. Johnson
- & Arend Sidow
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Article
| Open AccessInitial genome sequencing and analysis of multiple myeloma
Multiple myeloma, a malignancy of plasma cells, remains incurable and is poorly understood. Using next-generation sequencing of several multiple myeloma genomes reveals that this disease involves mutations of genes involved in protein translation, histone methylation and blood coagulation. The study suggests that BRAF inhibitors should be evaluated in multiple myeloma clinical trials.
- Michael A. Chapman
- , Michael S. Lawrence
- & Todd R. Golub
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Letter |
A cis-regulatory map of the Drosophila genome
As part of the modENCODE initiative, which aims to characterize functional DNA elements in D. melanogaster and C. elegans, this study created a map of the regulatory part of the fruitfly genome. On the basis of the developmental dynamics of chromatin modifications, polymerase and transcription factor occupancy this work defines a vast array of putative regulatory elements, such as enhancers, promoters, insulators and silencers. This resource represents the first attempt at a comprehensive annotation of cis-regulatory elements in a metazoan genome.
- Nicolas Nègre
- , Christopher D. Brown
- & Kevin P. White
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Letter |
Tumour evolution inferred by single-cell sequencing
Although it is known that tumours are genetically heterogeneous it has so far been difficult to dissect this heterogeneity at a single cell level. This paper combines whole-genome amplification and next-generation sequencing of flow-sorted nuclei from breast tumours to investigate their population structure and evolution. In contrast to gradual models of tumour progression, the results indicate that tumours grow by punctuated clonal expansions with few persistent intermediates.
- Nicholas Navin
- , Jude Kendall
- & Michael Wigler
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Editorial |
Best is yet to come
Ten years after the human genome was sequenced, its promise is still to be fulfilled.
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News |
Gene reading steps up a gear
Third-generation sequencing machines promise to make their mark one molecule at a time.
- Heidi Ledford
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Q&A |
Turning point: Jonathan Rothberg
Jonathan Rothberg has sparked his career with invention and entrepreneurship.
- Virginia Gewin
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Article |
Nascent transcript sequencing visualizes transcription at nucleotide resolution
A novel technique called native elongating transcript sequencing (NET-seq) is described, which can quantify transcription with single nucleotide resolution. It is based on sequencing nascent transcripts associated with RNA polymerase II that are captured directly from live cells, and is used to gain insights into polymerase pausing and backtracking and the directionality of transcription.
- L. Stirling Churchman
- & Jonathan S. Weissman
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Research Highlights |
Palaeoanthropology: Neanderthal family tree
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News |
DNA sequencing for the masses
The launch of a new technology marks a move towards small-scale sequencing in every lab.
- Alla Katsnelson
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News |
DNA sequence may be lost in translation
Researchers tackle a mysterious genetic phenomenon
- Alla Katsnelson
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