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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Publicado en:Nat Commun
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group UK 2018
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Article
Acceso en liña: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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