Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

Jiang, Yong‐hui; K. C. Yuen, Ryan; Jin, Xin; Wang, Mingbang; Chen, Nong; Wu, Xueli; Ju, Jia; Mei, Junpu; Shi, Yujian; He, Mingze; Wang, Guangbiao; Liang, Jieqin; Wang, Zhe; Cao, Dandan; T. Carter, Melissa; Chrysler, Christina; Drmic, Irene; Howe, Jennifer; Lau, Lynette; R. Marshall, Christian; Merico, Daniele; Nalpathamkalam, Thomas; Thiruvahindrapuram, Bhooma; Thompson, Ann; Uddin, Mohammed; Walker, Susan; Luo, Jun; Anagnostou, Evdokia; Zwaigenbaum, Lonnie; H. Ring, Robert; Wang, Jian; Lajonchere, Clara; Wang, Jun; Shih, Andy; Szatmári, Péter; Yang, Huanming; Dawson, Géraldine; Li, Yingrui; W. Scherer, Stephen

doi:10.1016/j.ajhg.2013.06.012

Public

Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

Published in The American Journal of Human Genetics • Jul 11, 2013

Authors:

Yong‐hui Jiang

Ryan K. C. Yuen

Xin Jin

Abstract

Autism Spectrum Disorder (ASD) demonstrates high heritability and familial clustering, yet the genetic causes remain only partially understood as a result of extensive clinical and genomic heterogeneity. Whole-genome sequencing (WGS) shows promise as a tool for identifying ASD risk genes as well as ...

Subject

Genetics

Autism spectrum disorder

Missense mutation

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