Article
Homozygous loss-of-function variants in European cosmopolitan and isolate populations.
Human molecular genetics - 1 Oct 2015
Kaiser Vera B, Svinti Victoria, Prendergast James G, Chau You-Ying, Campbell Archie, Patarcic Inga, Barroso Inês, Joshi Peter K, Hastie Nicholas D, Miljkovic Ana, Taylor Martin S, Enroth Stefan, Memari Yasin, Kolb-Kokocinski Anja, Wright Alan F, Gyllensten Ulf, Durbin Richard, Rudan Igor, Campbell Harry, Polašek Ozren, Johansson Åsa, Sauer Sascha, Porteous David J, Fraser Ross M, Drake Camilla, Vitart Veronique, Hayward Caroline, Semple Colin A, Wilson James F
Abstract excerpt
Homozygous loss of function (HLOF) variants provide a valuable window on gene function in humans, as well as an inventory of the human genes that are not essential for survival and reproduction. All humans carry at least a few HLOF variants, but the exact number of inactivated genes that can be tolerated is currently unknown—as are the phenotypic effects of losing function for most human genes. Here, we make use...
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