Statistical package for social science spss version 19.0

All genes spanning rare CNVs classified as either “pathogenic”, “likely pathogenic”, or “uncertain clinical significance” were selected, in addition to all genes spanning common CNVs and listed in the SFARI Gene database (“autism genes”). The open‐access web platform Gene Set Enrichment Analysis (GSEA) (http://software.broadinstitute.org/gsea/index.jsp) was then used to perform Enrichment Analysis with the Gene Ontology Functional database (Subramanian et al., 2005 (link)), applying a hypergeometric statistics. The FDR method was used to correct for multiple testing, setting statistical significance at FDR <0.05, and then exploring the dataset C5 from the Molecular Signature Database v7.2 (https://www.gsea‐msigdb.org/gsea/msigdb/) to select the top 10 most significant categories. In addition, pathway analysis was performed with R, using specific functions implemented in the Bioconductor package clusterProfiler version 4.6.2 1. The specific function groupGO() was used. In this analysis, we considered the more restrictive Gene Ontology levels 4 and 5. Other statistical analyses were performed using the IBM Statistical Package for Social Science (SPSS), version 19.0.