Analysis of protein-coding genetic variation in 60,706 humans.

Analysis of protein-coding genetic variation in 60,706 humans.

Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. Here we describe the aggregation and analysis of high-quality exome (protein-coding region) sequence data for 60,706 individuals of diverse ethnicities gener...

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Hlavní autoři: Lek, M, Karczewski, K, Minikel, E, Samocha, K, Banks, E, Fennell, T, O'Donnell-Luria, A, Ware, J, Hill, A, Cummings, B, Tukiainen, T, Birnbaum, D, Kosmicki, J, Duncan, L, Estrada, K, Zhao, F, Zou, J, Pierce-Hoffman, E, Berghout, J, Cooper, D, Deflaux, N, DePristo, M, Do, R, Flannick, J, Fromer, M, Gauthier, L, Goldstein, J, Gupta, N, Howrigan, D, Kiezun, A, Kurki, M, Moonshine, A, Natarajan, P, Orozco, L, Peloso, G, Poplin, R, Rivas, M, Ruano-Rubio, V, Rose, S, Ruderfer, D, Shakir, K, Stenson, P, Stevens, C, Thomas, B, Tiao, G, Tusie-Luna, M, Weisburd, B, Won, H, Yu, D, Altshuler, D, Ardissino, D, Boehnke, M, Danesh, J, Donnelly, S, Elosua, R, Florez, J, Gabriel, S, Getz, G, Glatt, S, Hultman, C, Kathiresan, S, Laakso, M, McCarroll, S, McCarthy, M, McGovern, D, McPherson, R, Neale, B, Palotie, A, Purcell, S, Saleheen, D, Scharf, J, Sklar, P, Sullivan, P, Tuomilehto, J, Tsuang, M, Watkins, H, Wilson, J, Daly, M, MacArthur, D
Médium: Journal article
Jazyk:English
Vydáno: Nature Publishing Group 2016

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