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Individuals with intellectual disability have an increased burden of <i>de novo</i> variants in <i>cis</i>-regulatory elements of glutamatergic neurons

2025-09-29

Abstract excerpt

<h4>ABSTRACT</h4> To understand the role of non-coding sequence variation in neurodevelopmental disorders, we studied 709,222 de novo variants (DNVs) using the genomes of 20,366 individuals. We found enrichment of DNVs at cis -regulatory elements (CREs) of all somatic cell types, attributable to the deamination of 5-methylcytosine at CG dinucleotide-dense CREs. In neurodivergent individuals with or without intell...

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Literature Corpus work
6e93c43b-2ee1-57c3-99d6-daae773a946b
DOI
10.1101/2025.09.23.25336266
Open publication

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