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Article

Rare variation in non-coding regions with evolutionary signatures contributes to autism spectrum disorder risk.

Cell genomics - 14 Aug 2024

Shin Taehwan, Song Janet H T, Kosicki Michael, Kenny Connor, Beck Samantha G, Kelley Lily, Antony Irene, Qian Xuyu, Bonacina Julieta, Papandile Frances, Gonzalez Dilenny, Scotellaro Julia, Bushinsky Evan M, Andersen Rebecca E, Maury Eduardo, Pennacchio Len A, Doan Ryan N, Walsh Christopher A

Abstract excerpt

Little is known about the role of non-coding regions in the etiology of autism spectrum disorder (ASD). We examined three classes of non-coding 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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39019033
DOI: 10.1016/j.xgen.2024.100609
PMCID: PMC11406188

Genes

IL1RAPL1
OTX1
SIM1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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