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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Detalhes bibliográficos
Principais autores:	Emdin, C, Khera, A, Chaffin, M, Klarin, D, Natarajan, P, Aragam, K, Haas, M, Bick, A, Zekavat, S, Nomura, A, Ardissino, D, Wilson, J, Schunkert, H, McPherson, R, Watkins, H, Elosua, R, Bown, M, Samani, N, Baber, U, Erdmann, J, Gupta, N, Danesh, J, Chasman, D, Ridker, P, Denny, J, Bastarache, L, Lichtman, J, D'Onofrio, G, Mattera, J, Spertus, J, Sheu, W, Taylor, K, Psaty, B, Rich, S, Post, W, Rotter, J, Chen, Y, Krumholz, H, Saleheen, D, Gabriel, S, Kathiresan, S
Formato:	Journal article
Idioma:	English
Publicado em:	Nature Publishing Group 2018

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

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