Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study.
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ABSTRACT:
SUBMITTER: DeBoever C
PROVIDER: S-EPMC5915386 | biostudies-literature | 2018 Apr
REPOSITORIES: biostudies-literature
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Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study.
DeBoever Christopher C Tanigawa Yosuke Y Lindholm Malene E ME McInnes Greg G Lavertu Adam A Ingelsson Erik E Chang Chris C Ashley Euan A EA Bustamante Carlos D CD Daly Mark J MJ Rivas Manuel A MA
Nature communications 20180424 1
Protein-truncating variants can have profound effects on gene function and are critical for clinical genome interpretation and generating therapeutic hypotheses, but their relevance to medical phenotypes has not been systematically assessed. Here, we characterize the effect of 18,228 protein-truncating variants across 135 phenotypes from the UK Biobank and find 27 associations between medical phenotypes and protein-truncating variants in genes outside the major histocompatibility complex. We per ...[more]
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