Construction of copy number variation landscape and characterization of associated genes in a Bangladeshi cohort of neurodevelopmental disorders.

Our custom pathway enrichment (comprising Gene Ontology and KEGG databases) analysis of the impacted genes within the CNV breakpoints of all pathogenic deletions identified “ubiquitin-like protein transferase activity (GO:0019787),” “negative regulation of cell death (GO:0060548),” and “vesicle-mediated transport in synapse (GO:0099003)” pathways to be highly significant (FDR p < 6.53 × 10 −7 , FDR p < 7.2 × 10 −6 , and FDR p < 7.1 × 10 −5 ) after correction for multiple tests ( Figure 3A ).

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