Article
Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder.
Science (New York, N.Y.) - 14 Dec 2018
An Joon-Yong, Lin Kevin, Zhu Lingxue, Werling Donna M, Dong Shan, Brand Harrison, Wang Harold Z, Zhao Xuefang, Schwartz Grace B, Collins Ryan L, Currall Benjamin B, Dastmalchi Claudia, Dea Jeanselle, Duhn Clif, Gilson Michael C, Klei Lambertus, Liang Lindsay, Markenscoff-Papadimitriou Eirene, Pochareddy Sirisha, Ahituv Nadav, Buxbaum Joseph D, Coon Hilary, Daly Mark J, Kim Young Shin, Marth Gabor T, Neale Benjamin M, Quinlan Aaron R, Rubenstein John L, Sestan Nenad, State Matthew W, Willsey A Jeremy, Talkowski Michael E, Devlin Bernie, Roeder Kathryn, Sanders Stephan J
Abstract excerpt
Whole-genome sequencing (WGS) has facilitated the first genome-wide evaluations of the contribution of de novo noncoding mutations to complex disorders. Using WGS, we identified 255,106 de novo mutations among sample genomes from members of 1902 quartet families in which one child, but not a sibling or their parents, was affected by autism spectrum disorder (ASD). In contrast to coding mutations, no noncoding...
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