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.

Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Nature Portfolio 2018-04-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-018-03910-9

Internet

https://doi.org/10.1038/s41467-018-03910-9

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