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

Published in Nature Communications, 2018

Recommended citation: C. DeBoever, Y. Tanigawa, M. E. Lindholm, G. McInnes, A. Lavertu, E. Ingelsson, C. Chang, E. A. Ashley, C. D. Bustamante, M. J. Daly, M. A. Rivas, Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study. Nat Commun. 9, 1612 (2018). https://doi.org/10.1038/s41467-018-03910-9

Using the UK Biobank population cohort, we investigated the genetic effects of Protein-truncating variants (PTVs) and the clinical impacts. As a second author of the paper, I contributed to the project specifically by applying genome-wide association analysis for 135 traits.

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