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

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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Detalles Bibliográficos
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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https://doaj.org/article/4ce5ec51846e458aa6a36cea259e640a

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