Article
Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees.
Proceedings of the National Academy of Sciences of the United States of America - 9 Jan 2018
Jun Goo, Manning Alisa, Almeida Marcio, Zawistowski Matthew, Wood Andrew R, Teslovich Tanya M, Fuchsberger Christian, Feng Shuang, Cingolani Pablo, Gaulton Kyle J, Dyer Thomas, Blackwell Thomas W, Chen Han, Chines Peter S, Choi Sungkyoung, Churchhouse Claire, Fontanillas Pierre, King Ryan, Lee SungYoung, Lincoln Stephen E, Trubetskoy Vasily, DePristo Mark, Fingerlin Tasha, Grossman Robert, Grundstad Jason, Heath Alison, Kim Jayoun, Kim Young Jin, Laramie Jason, Lee Jaehoon, Li Heng, Liu Xuanyao, Livne Oren, Locke Adam E, Maller Julian, Mazur Alexander, Morris Andrew P, Pollin Toni I, Ragona Derek, Reich David, Rivas Manuel A, Scott Laura J, Sim Xueling, Tearle Rick G, Teo Yik Ying, Williams Amy L, Zöllner Sebastian, Curran Joanne E, Peralta Juan, Akolkar Beena, Bell Graeme I, Burtt Noël P, Cox Nancy J, Florez Jose C, Hanis Craig L, McKeon Catherine, Mohlke Karen L, Seielstad Mark, Wilson James G, Atzmon Gil, Below Jennifer E, Dupuis Josée, Nicolae Dan L, Lehman Donna, Park Taesung, Won Sungho, Sladek Robert, Altshuler David, McCarthy Mark I, Duggirala Ravindranath, Boehnke Michael, Frayling Timothy M, Abecasis Gonçalo R, Blangero John
Abstract excerpt
A major challenge in evaluating the contribution of rare variants to complex disease is identifying enough copies of the rare alleles to permit informative statistical analysis. To investigate the contribution of rare variants to the risk of type 2 diabetes (T2D) and related traits, we performed deep whole-genome analysis of 1,034 members of 20 large Mexican-American families with high prevalence of T2D. If rare...
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