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Showing 1–5 of 5 results
Advanced filters: Author: Cornelia Kolb Clear advanced filters

  • Both rare and common variants contribute to the aetiology of complex traits such as type 2 diabetes (T2D). Here, the authors examine the effect of coding variation on glycaemic traits and T2D, and identify low-frequency variation in GLP1Rsignificantly associated with these traits.

    • Jennifer Wessel
    • Audrey Y Chu
    • Mark O Goodarzi
    ResearchOpen Access
    Nature Communications
    Volume: 6, P: 1-16

  • Imputation uses genotype information from SNP arrays to infer the genotypes of missing markers. Here, the authors show that an imputation reference panel derived from whole-genome sequencing of 3,781 samples from the UK10K project improves the imputation accuracy and coverage of low frequency variants compared to existing methods.

    • Jie Huang
    • Bryan Howie
    • Nicole Soranzo
    ResearchOpen Access
    Nature Communications
    Volume: 6, P: 1-9

  • Low read depth sequencing of whole genomes and high read depth exomes of nearly 10,000 extensively phenotyped individuals are combined to help characterize novel sequence variants, generate a highly accurate imputation reference panel and identify novel alleles associated with lipid-related traits; in addition to describing population structure and providing functional annotation of rare and low-frequency variants the authors use the data to estimate the benefits of sequencing for association studies.

    • Klaudia Walter
    • Josine L. Min
    • Weihua Zhang
    ResearchOpen Access
    Nature
    Volume: 526, P: 82-90

  • Richard Lifton and colleagues report the identification of three susceptibility loci for intracranial aneurysm. Two of the loci are new, with SNPs on chromosome 8q likely acting through SOX17, which is required for the formation and maintenance of endothelial cells.

    • Kaya Bilguvar
    • Katsuhito Yasuno
    • Murat Günel
    Research
    Nature Genetics
    Volume: 40, P: 1472-1477