Figure 4. Functional annotation analyses for pCSM loci.
(a) GO enrichment analysis for genes associated with pCSM loci during human brain development and cell specification. Genes associated with pCSM were defined as those with pCSM loci within 10 kb from their TSSs. The color represents p-values after Bonferroni correction. The GO terms were grouped as “biological process”, “molecular function” and “cellular component” (for the full result, see Supplementary Table 6). (b) Diseases/traits associated with pCSM loci. The color represents p-values determined by permutation tests with 10,000 iterations.