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Article

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Nature communications - 28 Jan 2020

Cirulli Elizabeth T, White Simon, Read Robert W, Elhanan Gai, Metcalf William J, Tanudjaja Francisco, Fath Donna M, Sandoval Efren, Isaksson Magnus, Schlauch Karen A, Grzymski Joseph J, Lu James T, Washington Nicole L

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31992710
DOI: 10.1038/s41467-020-14288-y
PMCID: PMC6987107

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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