Genomic landscapes of Chinese sporadic autism spectrum disorders revealed by whole-genome sequencing

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with considerable clinical and genetic heterogeneity. In this study, we identified all classes of genomic variants from whole-genome sequencing (WGS) dataset of 32 Chinese trios with ASD, including de novo mutations, inherited variants,...

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Published in:Journal of genetics and genomics 2018-10, Vol.45 (10), p.527-538
Main Authors: Wu, Jinyu, Yu, Ping, Jin, Xin, Xu, Xiu, Li, Jinchen, Li, Zhongshan, Wang, Mingbang, Wang, Tao, Wu, Xueli, Jiang, Yi, Cai, Wanshi, Mei, Junpu, Min, Qingjie, Xu, Qiong, Zhou, Bingrui, Guo, Hui, Wang, Ping, Zhou, Wenhao, Hu, Zhengmao, Li, Yingrui, Cai, Tao, Wang, Yi, Xia, Kun, Jiang, Yong-Hui, Sun, Zhong Sheng
Format: Article
Language:English
Subjects:
Autism spectrum disorders
De novo mutations
Microcephaly-associated genes
Whole-genome sequencing
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Summary:Autism spectrum disorder (ASD) is a neurodevelopmental disorder with considerable clinical and genetic heterogeneity. In this study, we identified all classes of genomic variants from whole-genome sequencing (WGS) dataset of 32 Chinese trios with ASD, including de novo mutations, inherited variants, copy number variants (CNVs) and genomic structural variants. A higher mutation rate (Poisson test, P 
ISSN:1673-8527
DOI:10.1016/j.jgg.2018.09.002