publication . Preprint . 2019

Genome-wide rare variant analysis for thousands of phenotypes in 54,000 exomes

Cirulli, Elizabeth T.; White, Simon; Read, Robert W.; Elhanan, Gai; Metcalf, William J; Schlauch, Karen A.; Grzymski, Joseph J.; Lu, James; Washington, Nicole L.;
Open Access
  • Published: 04 Jul 2019
  • Publisher: Cold Spring Harbor Laboratory
<jats:p>Defining the effects that rare variants can have on human phenotypes is essential to advancing our understanding of human health and disease. Large-scale human genetic analyses have thus far focused on common variants, but the development of large cohorts of deeply phenotyped individuals with exome sequence data has now made comprehensive analyses of rare variants possible. We analyzed the effects of rare (MAF&lt;0.1%) variants on 3,166 phenotypes in 40,468 exome-sequenced individuals from the UK Biobank and performed replication as well as meta-analyses with 1,067 phenotypes in 13,470 members of the Healthy Nevada Project (HNP) cohort who underwent Exom...
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