Article
Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease.
Nature communications - 24 Apr 2018
Emdin Connor A, Khera Amit V, Chaffin Mark, Klarin Derek, Natarajan Pradeep, Aragam Krishna, Haas Mary, Bick Alexander, Zekavat Seyedeh M, Nomura Akihiro, Ardissino Diego, Wilson James G, Schunkert Heribert, McPherson Ruth, Watkins Hugh, Elosua Roberto, Bown Matthew J, Samani Nilesh J, Baber Usman, Erdmann Jeanette, Gupta Namrata, Danesh John, Chasman Daniel, Ridker Paul, Denny Joshua, Bastarache Lisa, Lichtman Judith H, D'Onofrio Gail, Mattera Jennifer, Spertus John A, Sheu Wayne H-H, Taylor Kent D, Psaty Bruce M, Rich Stephen S, Post Wendy, Rotter Jerome I, Chen Yii-Der Ida, Krumholz Harlan, Saleheen Danish, Gabriel Stacey, Kathiresan Sekar
Abstract excerpt
Less than 3% of protein-coding genetic variants are predicted to result in loss of protein function through the introduction of a stop codon, frameshift, or the disruption of an essential splice site; however, such predicted loss-of-function (pLOF) variants provide insight into effector transcript and direction of biological effect. In >400,000 UK Biobank participants, we conduct association analyses of 3759 pLOF...
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