Article
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.
Cell - 6 Feb 2020
Satterstrom F Kyle, Kosmicki Jack A, Wang Jiebiao, Breen Michael S, De Rubeis Silvia, An Joon-Yong, Peng Minshi, Collins Ryan, Grove Jakob, Klei Lambertus, Stevens Christine, Reichert Jennifer, Mulhern Maureen S, Artomov Mykyta, Gerges Sherif, Sheppard Brooke, Xu Xinyi, Bhaduri Aparna, Norman Utku, Brand Harrison, Schwartz Grace, Nguyen Rachel, Guerrero Elizabeth E, Dias Caroline, Betancur Catalina, Cook Edwin H, Gallagher Louise, Gill Michael, Sutcliffe James S, Thurm Audrey, Zwick Michael E, Børglum Anders D, State Matthew W, Cicek A Ercument, Talkowski Michael E, Cutler David J, Devlin Bernie, Sanders Stephan J, Roeder Kathryn, Daly Mark J, Buxbaum Joseph D
Abstract excerpt
We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n = 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to integrate de novo and case-control rare variation, we identify 102 risk genes at a false discovery rate of 0.1 or less. Of these genes, 49 show higher frequencies of disruptive de novo variants in individuals ascertained to have severe...
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