Fig. 3

Overrepresentation analysis of genes containing variants with potential clinical relevance in the unaffected twin. Hypergeometric tests performed between the set of 227 genes that contains DVMTs of the unaffected twin, and the Gene Ontology (GO) gene sets for biological processes (BP), cellular components (CC) or molecular functions (MF) obtained from MsigDB database (https://www.gsea-msigdb.org/gsea/msigdb/), point to 16 overrepresented BPs (A), 9 CCs (B), and 1 overrepresented MF (C). Red bars indicate the proportion of genes tested (elements of the set of 227 genes) for each GO predefined gene set. Benjamini-Hochberg (FDR) multiple test correction method for enrichment testing was used, and gene sets with adjusted p-value < 0.05 were considered significative. The larger blue bars indicate that the test results are more likely to be non-random