Article
A systematic survey of loss-of-function variants in human protein-coding genes.
Science (New York, N.Y.) - 17 Feb 2012
MacArthur Daniel G, Balasubramanian Suganthi, Frankish Adam, Huang Ni, Morris James, Walter Klaudia, Jostins Luke, Habegger Lukas, Pickrell Joseph K, Montgomery Stephen B, Albers Cornelis A, Zhang Zhengdong D, Conrad Donald F, Lunter Gerton, Zheng Hancheng, Ayub Qasim, DePristo Mark A, Banks Eric, Hu Min, Handsaker Robert E, Rosenfeld Jeffrey A, Fromer Menachem, Jin Mike, Mu Xinmeng Jasmine, Khurana Ekta, Ye Kai, Kay Mike, Saunders Gary Ian, Suner Marie-Marthe, Hunt Toby, Barnes If H A, Amid Clara, Carvalho-Silva Denise R, Bignell Alexandra H, Snow Catherine, Yngvadottir Bryndis, Bumpstead Suzannah, Cooper David N, Xue Yali, Romero Irene Gallego, Wang Jun, Li Yingrui, Gibbs Richard A, McCarroll Steven A, Dermitzakis Emmanouil T, Pritchard Jonathan K, Barrett Jeffrey C, Harrow Jennifer, Hurles Matthew E, Gerstein Mark B, Tyler-Smith Chris
Abstract excerpt
Genome-sequencing studies indicate that all humans carry many genetic variants predicted to cause loss of function (LoF) of protein-coding genes, suggesting unexpected redundancy in the human genome. Here we apply stringent filters to 2951 putative LoF variants obtained from 185 human genomes to determine their true prevalence and properties. We estimate that human genomes typically contain ~100 genuine LoF...
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