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Showing 1–6 of 6 results
Advanced filters: Author: Janet R. Voight Clear advanced filters

  • Germline mutation rate is a critical parameter in the study of genetics and evolution. Here, Carlson et al. infer fine-scale patterns of human mutation rate heterogeneity by analyzing ~36 million singleton variants from 3560 whole-genome sequences.

    • Jedidiah Carlson
    • Adam E. Locke
    • Stanley J. Watson
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-13

  • Cristen Willer and colleagues report genome-wide association analyses for blood lipid levels in 188,578 individuals. They identify 62 loci newly associated with blood lipid levels, refine the association signals at 12 loci and examine associations with cardiovascular and metabolic traits.

    • Cristen J Willer
    • Ellen M Schmidt
    • Gonçalo R Abecasis
    Research
    Nature Genetics
    Volume: 45, P: 1274-1283

  • A risk haplotype for type 2 diabetes is identified with four amino acid substitutions in SLC16A11, which is present at ∼50% frequency in Native American samples and ∼10% in east Asian samples, but is rare in European and African samples; SLC16A11 may alter hepatic lipid metabolism, causing an increase in triacylglycerol levels.

    • Amy L. Williams
    • Suzanne B. R. Jacobs
    • Teresa Tusié-Luna
    Research
    Nature
    Volume: 506, P: 97-101