Article
Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder.
Nature genetics - 1 Jul 2014
Uddin Mohammed, Tammimies Kristiina, Pellecchia Giovanna, Alipanahi Babak, Hu Pingzhao, Wang Zhuozhi, Pinto Dalila, Lau Lynette, Nalpathamkalam Thomas, Marshall Christian R, Blencowe Benjamin J, Frey Brendan J, Merico Daniele, Yuen Ryan K C, Scherer Stephen W
Abstract excerpt
A universal challenge in genetic studies of autism spectrum disorders (ASDs) is determining whether a given DNA sequence alteration will manifest as disease. Among different population controls, we observed, for specific exons, an inverse correlation between exon expression level in brain and burden of rare missense mutations. For genes that harbor de novo mutations predicted to be deleterious, we found that...
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