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Article

Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders.

Scientific reports - 15 Apr 2024

Wigdor Emilie M, Samocha Kaitlin E, Eberhardt Ruth Y, Chundru V Kartik, Firth Helen V, Wright Caroline F, Hurles Matthew E, Martin Hilary C

Abstract excerpt

Recent work has revealed an important role for rare, incompletely penetrant inherited coding variants in neurodevelopmental disorders (NDDs). Additionally, we have previously shown that common variants contribute to risk for rare NDDs. Here, we investigate whether common variants exert their effects by modifying gene expression, using multi-cis-expression quantitative trait loci (cis-eQTL) prediction models. We...

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PMID: 38622173
DOI: 10.1038/s41598-024-58894-y
PMCID: PMC11018828

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