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

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 Nev...

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Published in:Nat Commun
Main Authors: 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.
Format: Artigo
Language:Inglês
Published: Nature Publishing Group UK 2020
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6987107/
https://ncbi.nlm.nih.gov/pubmed/31992710
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-020-14288-y
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