Exome sequencing and analysis of 454,787 UK Biobank participants.

ABSTRACT: A major goal in human genetics is to use natural variation to understand the phenotypic consequences of altering each protein-coding gene in the genome. Here we used exome sequencing¹ to explore protein-altering variants and their consequences in 454,787 participants in the UK Biobank study². We identified 12 million coding variants, including around 1 million loss-of-function and around 1.8 million deleterious missense variants. When these were tested for association with 3,994 health-related traits, we found 564 genes with trait associations at P ≤ 2.18 × 10^-11. Rare variant associations were enriched in loci from genome-wide association studies (GWAS), but most (91%) were independent of common variant signals. We discovered several risk-increasing associ

SUBMITTER: Backman JD 

PROVIDER: S-EPMC8596853 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature