作者
Pamela Feliciano, Xueya Zhou, Irina Astrovskaya, Tychele N Turner, Tianyun Wang, Leo Brueggeman, Rebecca Barnard, Alexander Hsieh, LeeAnne Green Snyder, Donna M Muzny, Aniko Sabo, Richard A Gibbs, Evan E Eichler, Brian J O’Roak, Jacob J Michaelson, Natalia Volfovsky, Yufeng Shen, Wendy K Chung
发表日期
2019/8/23
期刊
NPJ genomic medicine
卷号
4
期号
1
页码范围
19
出版商
Nature Publishing Group UK
简介
Autism spectrum disorder (ASD) is a genetically heterogeneous condition, caused by a combination of rare de novo and inherited variants as well as common variants in at least several hundred genes. However, significantly larger sample sizes are needed to identify the complete set of genetic risk factors. We conducted a pilot study for SPARK (SPARKForAutism.org) of 457 families with ASD, all consented online. Whole exome sequencing (WES) and genotyping data were generated for each family using DNA from saliva. We identified variants in genes and loci that are clinically recognized causes or significant contributors to ASD in 10.4% of families without previous genetic findings. In addition, we identified variants that are possibly associated with ASD in an additional 3.4% of families. A meta-analysis using the TADA framework at a false discovery rate (FDR) of 0.1 provides statistical support for 26 ASD risk …
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P Feliciano, X Zhou, I Astrovskaya, TN Turner, T Wang… - NPJ genomic medicine, 2019