Fig. 4

Gene set enrichment analysis of the differentially methylated genes. a Top enriched Gene Ontology (GO) terms, Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways, and Reactome pathways from GSEA of DMRs and DMPs. Columns represent (1) name (2) number of significant/total number of genes (3) false discovery rate (FDR) of over-representation of term or pathway. Full list of terms and pathways in Additional file 6: Table S5, Additional file 7: Table S6, Additional file 8: Table S7, Additional file 9: Table S8, Additional file 10: Table S9, Additional file 11: Table S10. b Sankey diagram of muscle contraction-related pathways across the three GSEA databases tested and genes within those pathways that were both differentially methylated and expressed (in GTEx and FUSION) between males and females. Numbers next to pathways denote the number of enriched genes in the pathway; numbers next to genes denote the number of pathways (from the ones displayed) that the gene belongs to. Diagram created using SankeyMATIC