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

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

doi:10.1038/s41467-018-03910-9

Nature Communications (Apr 2018)

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

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

Affiliations

Christopher DeBoever: Department of Biomedical Data Science, Stanford University
Yosuke Tanigawa: Department of Biomedical Data Science, Stanford University
Malene E. Lindholm: Grail, Inc.
Greg McInnes: Department of Biomedical Data Science, Stanford University
Adam Lavertu: Department of Biomedical Data Science, Stanford University
Erik Ingelsson: Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine
Chris Chang: Grail, Inc.
Euan A. Ashley: Department of Medicine, School of Medicine, Stanford University
Carlos D. Bustamante: Department of Biomedical Data Science, Stanford University
Mark J. Daly: Analytical and Translational Genetics Unit
Manuel A. Rivas: Department of Biomedical Data Science, Stanford University

DOI: https://doi.org/10.1038/s41467-018-03910-9
Journal volume & issue: Vol. 9, no. 1
pp. 1 – 10

Abstract

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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.

Published in Nature Communications

ISSN: 2041-1723 (Online)
Publisher: Nature Portfolio
Country of publisher: United Kingdom
LCC subjects: Science
Website: https://www.nature.com/ncomms/

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