Genome-wide molecular effects of the neuropsychiatric 16p11 CNVs in an iPSC-to-iN neuronal model

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Researchers used stem cells from 16p11.2 CNV patients (both deletions and duplications) to grow neurons in the lab and study how these genetic changes affect gene activity and DNA patterns, identifying two specific genes—PCSK9 and the protocadherin family—that may help explain some of the health challenges seen in 16p11.2 families.