학술논문
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes
Document Type
article
Author
Zhou, Xueya; Feliciano, Pamela; Shu, Chang; Wang, Tianyun; Astrovskaya, Irina; Hall, Jacob B; Obiajulu, Joseph U; Wright, Jessica R; Murali, Shwetha C; Xu, Simon Xuming; Brueggeman, Leo; Thomas, Taylor R; Marchenko, Olena; Fleisch, Christopher; Barns, Sarah D; Snyder, LeeAnne Green; Han, Bing; Chang, Timothy S; Turner, Tychele N; Harvey, William T; Nishida, Andrew; O’Roak, Brian J; Geschwind, Daniel H; Michaelson, Jacob J; Volfovsky, Natalia; Eichler, Evan E; Shen, Yufeng; Chung, Wendy K
Source
Nature Genetics. 54(9)
Subject
Language
Abstract
To capture the full spectrum of genetic risk for autism, we performed a two-stage analysis of rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new cases recruited online by SPARK. We identified 60 genes with exome-wide significance (P