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...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v: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
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group UK 2018
Teme:
Article
Online dostop: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
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki