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


ABSTRACT: We examined three classes of noncoding regions with different patterns of conservation and constraint: Human Accelerated Regions (HARs), which show signatures of positive selection in the human lineage; experimentally validated neural Vista Enhancers (VEs); and candidate neural enhancers (CNEs). We interrogate the in vitro enhancer activity of HARs, VEs, and CNEs in capture-based massively parallel reporter assays (caMPRAs). We also perform random mutagenesis on HARs to assess the effeects of single nucleotide variants on enhancer activity.

ORGANISM(S): Homo sapiens

PROVIDER: GSE243549 | GEO | 2024/05/13

REPOSITORIES: GEO

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