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Showing 1–16 of 16 results
Advanced filters: Author: Lucinda Barrett Clear advanced filters

  • The Cancer Genome Atlas Research Network report integrated genomic and molecular analyses of 164 squamous cell carcinomas and adenocarcinomas of the oesophagus; they find genomic and molecular features that differentiate squamous and adenocarcinomas of the oesophagus, and strong similarities between oesophageal adenocarcinomas and the chromosomally unstable variant of gastric adenocarcinoma, suggesting that gastroesophageal adenocarcinoma is a single disease entity.

    • Jihun Kim
    • Reanne Bowlby
    • Jiashan Zhang
    ResearchOpen Access
    Nature
    Volume: 541, P: 169-175

  • Phylogenomic analysis of 7,923 angiosperm species using a standardized set of 353 nuclear genes produced an angiosperm tree of life dated with 200 fossil calibrations, providing key insights into evolutionary relationships and diversification.

    • Alexandre R. Zuntini
    • Tom Carruthers
    • William J. Baker
    ResearchOpen Access
    Nature
    Volume: 629, P: 843-850

  • An initial draft of the human pangenome is presented and made publicly available by the Human Pangenome Reference Consortium; the draft contains 94 de novo haplotype assemblies from 47 ancestrally diverse individuals.

    • Wen-Wei Liao
    • Mobin Asri
    • Benedict Paten
    ResearchOpen Access
    Nature
    Volume: 617, P: 312-324

  • The goal of the 1000 Genomes Project is to provide in-depth information on variation in human genome sequences. In the pilot phase reported here, different strategies for genome-wide sequencing, using high-throughput sequencing platforms, were developed and compared. The resulting data set includes more than 95% of the currently accessible variants found in any individual, and can be used to inform association and functional studies.

    • Richard M. Durbin
    • David Altshuler (Co-Chair)
    • Gil A. McVean
    ResearchOpen Access
    Nature
    Volume: 467, P: 1061-1073

  • Comparisons within the human pangenome establish that homologous regions on short arms of heterologous human acrocentric chromosomes actively recombine, leading to the high rate of Robertsonian translocation breakpoints in these regions.

    • Andrea Guarracino
    • Silvia Buonaiuto
    • Erik Garrison
    ResearchOpen Access
    Nature
    Volume: 617, P: 335-343

  • A study comparing the pattern of single-nucleotide variation between unique and duplicated regions of the human genome shows that mutation rate and interlocus gene conversion are elevated in duplicated regions.

    • Mitchell R. Vollger
    • Philip C. Dishuck
    • Evan E. Eichler
    ResearchOpen Access
    Nature
    Volume: 617, P: 325-334

  • A consortium reports the tripling of the number of genetic markers in Phase II of the International HapMap Project. This map of human genetic variation will continue to revolutionize discovery of susceptibility loci in common genetic diseases, and study of genes under selection in humans.

    • Kelly A. Frazer (Principal Investigator)
    • Dennis G. Ballinger
    • John Stewart
    Research
    Nature
    Volume: 449, P: 851-861

  • The Human Pangenome Reference Consortium aims to offer the highest quality and most complete human pangenome reference that provides diverse genomic representation across human populations.

    • Ting Wang
    • Lucinda Antonacci-Fulton
    • David Haussler
    Reviews
    Nature
    Volume: 604, P: 437-446

  • Lipworth et al. conduct a molecular epidemiological analysis of Gram-negative bloodstream infections in children in Oxfordshire, England, over a 10-year period. The authors report E. coli as the main causative agent and observe a similar population structure to that seen in adult infections with a stable incidence of antimicrobial resistance.

    • Sam Lipworth
    • Karina-Doris Vihta
    • Nicole Stoesser
    ResearchOpen Access
    Communications Medicine
    Volume: 2, P: 1-8

  • Sabeti et al. build on their This paper builds on previous work of detecting selection on human genes, using the many more markers available in the Phase II HapMap project. Three examples of apparent population-specific selection based on geographic area are described, and how these may relate to human biology is discussed.

    • Pardis C. Sabeti
    • Patrick Varilly
    • John Stewart
    Research
    Nature
    Volume: 449, P: 913-918