Fig. 5

Enrichment of ASD DMRs with biological processes and ASD-risk genes. Gene ontology enrichment in (A) females and (B) males. Sex-specific DMRs from each tissue were examined for gene ontology enrichments using GOfuncR. Biological process enrichments with p < 0.2 from all tissues were overlapped and graphed by their -log(p-value). The dotted black lines represent p = 0.05. (C) Heatmap of sex-specific DMRs from each tissue overlapped with SFARI genes, with darker purple indicating a higher odds ratio (range: 0–40). * p < 0.05, ** p < 0.01, *** p < 0.001, **** p < 0.0001. (D) Venn diagram of DMR genes identified in females from discovery newborn blood and replication newborn blood overlapped with SFARI genes