Cell-type specific global reprogramming of the transcriptome and epigenome in induced neurons with the 16p11.2 neuropsychiatric CNVs.

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Researchers used stem cells from 16p11.2 patients to study how deletions and duplications change gene activity and DNA patterns in brain cells, identifying specific genes like PCSK9 and the PCDH family that may help explain symptoms seen in children and adults with 16p11.2 conditions.