Topologically associating domains define the impact of de novo promoter variants on autism spectrum disorder risk
Nakamura T, Ueda J, Mizuno S, Honda K, Kazuno A, Yamamoto H, Hara T, Takata A. Topologically associating domains define the impact of de novo promoter variants on autism spectrum disorder risk. Cell Genomics 2024, 4: 100488. PMID: 38280381, PMCID: PMC10879036, DOI: 10.1016/j.xgen.2024.100488.Peer-Reviewed Original ResearchConceptsWhole-genome sequencingASD genesWhole-genome sequencing dataTopologically associating domainsInfluence multiple genesGene regulatory mechanismsASD-associated genesGenetic architectureASD heritabilityMultiple genesASD probandsPromoter variantsGenesAutism spectrum disorder riskHuman induced pluripotent stem cellsPromoterPluripotent stem cellsTADStudies of autism spectrum disorderVariantsAutism spectrum disorderStem cellsSequenceProbandsHeritability
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