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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5915445/
https://www.ncbi.nlm.nih.gov/pubmed/29691411
http://dx.doi.org/10.1038/s41467-018-03911-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5915445/
https://www.ncbi.nlm.nih.gov/pubmed/29691411
http://dx.doi.org/10.1038/s41467-018-03911-8

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