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Showing 1–7 of 7 results
Advanced filters: Author: Douglas Bainbridge Clear advanced filters

  • This report from the 1000 Genomes Project describes the genomes of 1,092 individuals from 14 human populations, providing a resource for common and low-frequency variant analysis in individuals from diverse populations; hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites, can be found in each individual.

    • Gil A. McVean
    • David M. Altshuler (Co-Chair)
    • Gil A. McVean
    ResearchOpen Access
    Nature
    Volume: 491, P: 56-65

  • Results for the final phase of the 1000 Genomes Project are presented including whole-genome sequencing, targeted exome sequencing, and genotyping on high-density SNP arrays for 2,504 individuals across 26 populations, providing a global reference data set to support biomedical genetics.

    • Adam Auton
    • Gonçalo R. Abecasis
    • Gonçalo R. Abecasis
    ResearchOpen Access
    Nature
    Volume: 526, P: 68-74

  • Binding of the small-molecule inhibitor CGI1746 to Bruton's tyrosine kinase (Btk), a therapeutic target for rheumatoid arthritis, induces an inactive Btk conformation. Application of this specific chemical probe reveals two Btk signaling pathways involved in inflammatory arthritis.

    • Julie A Di Paolo
    • Tao Huang
    • Kevin S Currie
    Research
    Nature Chemical Biology
    Volume: 7, P: 41-50

  • 1000 Genomes imputation can increase the power of genome-wide association studies to detect genetic variants associated with human traits and diseases. Here, the authors develop a method to integrate and analyse low-coverage sequence data and SNP array data, and show that it improves imputation performance.

    • Olivier Delaneau
    • Jonathan Marchini
    • Leena Peltonenz
    Research
    Nature Communications
    Volume: 5, P: 1-9

  • The Cancer Genome Atlas consortium reports on their genome-wide characterization of somatic alterations in colorectal cancer; in addition to revealing a remarkably consistent pattern of genomic alteration, with 24 genes being significantly mutated, the study identifies new targets for therapeutic intervention and suggests an important role for MYC-directed transcriptional activation and repression.

    • Donna M. Muzny
    • Matthew N. Bainbridge
    • Elizabeth Thomson.
    ResearchOpen Access
    Nature
    Volume: 487, P: 330-337