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Showing 1–5 of 5 results
Advanced filters: Author: Sverrir Kristinsson Clear advanced filters
  • A study reports whole-genome sequences for 490,640 participants from the UK Biobank and combines these data with phenotypic data to provide new insights into the relationship between human variation and sequence variation.

    • Keren Carss
    • Bjarni V. Halldorsson
    • Ole Schulz-Trieglaff
    ResearchOpen Access
    Nature
    Volume: 645, P: 692-701
  • The effect of sequence variants on phenotypes may depend on parental origin. Here, a method is developed that takes parental origin — the impact of which, to date, has largely been ignored — into account in genome-wide association studies. For 38,167 Icelanders genotyped, the parental origin of most alleles is determined; furthermore, a number of variants are found that show associations specific to parental origin, including three with type 2 diabetes.

    • Augustine Kong
    • Valgerdur Steinthorsdottir
    • Kari Stefansson
    Research
    Nature
    Volume: 462, P: 868-874
  • To measure selection on variants, whole-genome sequencing of approximately 150,000 individuals from the UK Biobank is used to rank sequence variants by their level of depletion.

    • Bjarni V. Halldorsson
    • Hannes P. Eggertsson
    • Kari Stefansson
    ResearchOpen Access
    Nature
    Volume: 607, P: 732-740