Article

Cell-type-specific effects of autism-associated chromosome 15q11.2-13.1 duplications in human brain

2024-05-22

Abstract excerpt

Recurrent copy number variation represents one of the most well-established genetic drivers in neurodevelopmental disorders, including autism spectrum disorder (ASD). Duplication of 15q11.2-13.1 (dup15q) is a well-described neurodevelopmental syndrome that increases the risk of ASD by over 40-fold. However, the effects of this duplication on gene expression and chromatin accessibility in specific cell types in the...

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Literature Corpus work: 5b264674-92b9-52ef-8e4b-fcc9017e81d6
DOI: 10.1101/2024.05.22.595175

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