Nature Communications (Jan 2020)

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

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

DOI
https://doi.org/10.1038/s41467-020-14288-y
Journal volume & issue
Vol. 11, no. 1
pp. 1 – 10

Abstract

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Population-based association analyses of rare genetic variants with complex traits are limited by the availability of data from sufficiently large cohorts. Here, Cirulli et al. report gene-based collapsing analysis of exomes from 49,960 participants of the UK Biobank and 21,866 participants of the Healthy Nevada Project over a total of 4377 traits.