Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease

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 a...

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Publié dans:Nat Commun
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group UK 2018
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5915445/
https://ncbi.nlm.nih.gov/pubmed/29691411
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-018-03911-8
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