Article

Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

2018-11-30

Abstract excerpt

<h4>Summary</h4> We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n=35,584 total samples, 11,986 with ASD). Using an enhanced Bayesian framework to integrate de novo and case-control rare variation, we identify 102 risk genes at a false discovery rate ≤ 0.1. Of these genes, 49 show higher frequencies of disruptive de novo variants in individuals ascertained for severe neu...

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Literature Corpus work: dabd3541-26a5-5ca6-a1ef-0678220da3b2
DOI: 10.1101/484113

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