Isoform transcriptome of patient-derived cerebral organoids from 16p11.2 CNV carriers with autism

Copy number variants (CNVs) represent significant risk factors for Autism Spectrum Disorders (ASD). One of the most frequent CNVs involved in ASD is a deletion or duplication of the 16p11.2 CNV locus, spanning 29 protein-coding genes. Despite the progress in linking 16p11.2 genetic changes with the phenotypic (macrocephaly and microcephaly) abnormalities in the patients and model organisms, the specific molecular pathways impacted by this CNV remain unknown. We generated bulk RNA-seq and TMT proteomic data from patient-derived cerebral organoids (3 deletion, 3 duplication and 3 control patients). The goal of the project is to analyze isoform-level RNA-seq data, as well as proteomics data to investigate functional impact of 16p11.2 CNV.