A systematic survey of loss-of-function variants in human protein-coding genes

Por 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, Conrad, Donald F., Lunter, Gerton, Zheng, Hancheng, Ayub, Qasim, DePristo, Mark A., Banks, Eric, Hu, Min, Handsaker, Robert E., Rosenfeld, Jeffrey, 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
Publicado em 2012