Article

Rare variation in noncoding regions with evolutionary signatures contributes to autism spectrum disorder risk

2023-09-22

Abstract excerpt

Little is known about the role of noncoding regions in the etiology of autism spectrum disorder (ASD). We examined three classes of noncoding regions: Human Accelerated Regions (HARs), which show signatures of positive selection in humans; experimentally validated neural Vista Enhancers (VEs); and conserved regions predicted to act as neural enhancers (CNEs). Targeted and whole genome analysis of >16,600 samples a...

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Literature Corpus work: 4f8faecf-04c3-5f36-9cb6-9a6c95803686
DOI: 10.1101/2023.09.19.23295780

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