Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
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ABSTRACT:
SUBMITTER: Cirulli ET
PROVIDER: S-EPMC6987107 | biostudies-literature | 2020 Jan
REPOSITORIES: biostudies-literature
Publications
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli Elizabeth T ET White Simon S Read Robert W RW Elhanan Gai G Metcalf William J WJ Tanudjaja Francisco F Fath Donna M DM Sandoval Efren E Isaksson Magnus M Schlauch Karen A KA Grzymski Joseph J JJ Lu James T JT Washington Nicole L NL
Nature communications 20200128 1
Understanding the impact of rare variants is essential to understanding human health. We analyze rare (MAF < 0.1%) variants against 4264 phenotypes in 49,960 exome-sequenced individuals from the UK Biobank and 1934 phenotypes (1821 overlapping with UK Biobank) in 21,866 members of the Healthy Nevada Project (HNP) cohort who underwent Exome + sequencing at Helix. After using our rare-variant-tailored methodology to reduce test statistic inflation, we identify 64 statistically significant gene-bas ...[more]
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