Gene ontology analysis showed an enrichment of genes involved in extracellular biological processes such as cell adhesion, recognition and communication in CNVs. However, genes involved in intracellular processes such as biosynthetic and metabolic pathways were underrepresented in CNV regions (Supplementary Methods and Supplementary Fig. 1.3). These findings confirm and extend previous observations that CNVs are preferentially found in genes at the periphery of cellular networks24.
