Article
Whole-genome sequencing of quartet families with autism spectrum disorder.
Nature medicine - 1 Feb 2015
Yuen Ryan K C, Thiruvahindrapuram Bhooma, Merico Daniele, Walker Susan, Tammimies Kristiina, Hoang Ny, Chrysler Christina, Nalpathamkalam Thomas, Pellecchia Giovanna, Liu Yi, Gazzellone Matthew J, D'Abate Lia, Deneault Eric, Howe Jennifer L, Liu Richard S C, Thompson Ann, Zarrei Mehdi, Uddin Mohammed, Marshall Christian R, Ring Robert H, Zwaigenbaum Lonnie, Ray Peter N, Weksberg Rosanna, Carter Melissa T, Fernandez Bridget A, Roberts Wendy, Szatmari Peter, Scherer Stephen W
Abstract excerpt
Autism spectrum disorder (ASD) is genetically heterogeneous, with evidence for hundreds of susceptibility loci. Previous microarray and exome-sequencing studies have examined portions of the genome in simplex families (parents and one ASD-affected child) having presumed sporadic forms of the disorder. We used whole-genome sequencing (WGS) of 85 quartet families (parents and two ASD-affected siblings), consisting...
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