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

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 H...

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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2020
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/1a27704ae2324129bc0ffad091c43998
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spelling	oai:doaj.org-article:1a27704ae2324129bc0ffad091c439982021-12-02T14:42:48ZGenome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts10.1038/s41467-020-14288-y2041-1723https://doaj.org/article/1a27704ae2324129bc0ffad091c439982020-01-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-14288-yhttps://doaj.org/toc/2041-1723Population-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.Elizabeth T. CirulliSimon WhiteRobert W. ReadGai ElhananWilliam J. MetcalfFrancisco TanudjajaDonna M. FathEfren SandovalMagnus IsakssonKaren A. SchlauchJoseph J. GrzymskiJames T. LuNicole L. WashingtonNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-10 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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 Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts
description	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.
format	article
author	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
author_facet	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
author_sort	Elizabeth T. Cirulli
title	Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts
title_short	Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts
title_full	Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts
title_fullStr	Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts
title_full_unstemmed	Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts
title_sort	genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts
publisher	Nature Portfolio
publishDate	2020
url	https://doaj.org/article/1a27704ae2324129bc0ffad091c43998
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Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts

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