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

Published in Nature Communications, 2018

Using the UK Biobank population cohort, we investigated the genetic effects of Protein-truncating variants (PTVs) and the clinical impacts.

PTVs paper figure 1

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