Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study

Protein-truncating variants (PTVs) are predicted to significantly affect a gene’s function and, thus, human traits. Here, DeBoever et al. systematically analyze PTVs in more than 300,000 individuals across 135 phenotypes and identify 27 associations between PTVs and medical conditions.

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Autores principales:	Christopher DeBoever, Yosuke Tanigawa, Malene E. Lindholm, Greg McInnes, Adam Lavertu, Erik Ingelsson, Chris Chang, Euan A. Ashley, Carlos D. Bustamante, Mark J. Daly, Manuel A. Rivas
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2018
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/4ce5ec51846e458aa6a36cea259e640a
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spelling	oai:doaj.org-article:4ce5ec51846e458aa6a36cea259e640a2021-12-02T15:34:06ZMedical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study10.1038/s41467-018-03910-92041-1723https://doaj.org/article/4ce5ec51846e458aa6a36cea259e640a2018-04-01T00:00:00Zhttps://doi.org/10.1038/s41467-018-03910-9https://doaj.org/toc/2041-1723Protein-truncating variants (PTVs) are predicted to significantly affect a gene’s function and, thus, human traits. Here, DeBoever et al. systematically analyze PTVs in more than 300,000 individuals across 135 phenotypes and identify 27 associations between PTVs and medical conditions.Christopher DeBoeverYosuke TanigawaMalene E. LindholmGreg McInnesAdam LavertuErik IngelssonChris ChangEuan A. AshleyCarlos D. BustamanteMark J. DalyManuel A. RivasNature PortfolioarticleScienceQENNature Communications, Vol 9, Iss 1, Pp 1-10 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Christopher DeBoever Yosuke Tanigawa Malene E. Lindholm Greg McInnes Adam Lavertu Erik Ingelsson Chris Chang Euan A. Ashley Carlos D. Bustamante Mark J. Daly Manuel A. Rivas Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study
description	Protein-truncating variants (PTVs) are predicted to significantly affect a gene’s function and, thus, human traits. Here, DeBoever et al. systematically analyze PTVs in more than 300,000 individuals across 135 phenotypes and identify 27 associations between PTVs and medical conditions.
format	article
author	Christopher DeBoever Yosuke Tanigawa Malene E. Lindholm Greg McInnes Adam Lavertu Erik Ingelsson Chris Chang Euan A. Ashley Carlos D. Bustamante Mark J. Daly Manuel A. Rivas
author_facet	Christopher DeBoever Yosuke Tanigawa Malene E. Lindholm Greg McInnes Adam Lavertu Erik Ingelsson Chris Chang Euan A. Ashley Carlos D. Bustamante Mark J. Daly Manuel A. Rivas
author_sort	Christopher DeBoever
title	Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study
title_short	Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study
title_full	Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study
title_fullStr	Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study
title_full_unstemmed	Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study
title_sort	medical relevance of protein-truncating variants across 337,205 individuals in the uk biobank study
publisher	Nature Portfolio
publishDate	2018
url	https://doaj.org/article/4ce5ec51846e458aa6a36cea259e640a
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Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study

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