Abstract

<p>DNA methylation-based gene set enrichment captures gene expression-based pathway-level differences. <b>A,</b> Dotplot for top 40 significant RNA enrichment terms, colored by −log<sub>10</sub>(<i>P</i>-value) illustrating enrichment results from RNA, DMRs across the whole genome, <5 kb from TSS, exons, and introns. <b>B,</b> Scatter plot for directional RNA and DNA methylation enrichment test results. Right quadrants represent significantly hypermethylated GO terms in IMU; top quadrants represent overexpressed terms in IMU. Red: terms significant with FDR < 0.05 for both methylation and expression. <b>C–F,</b> Specific genes’ visualization from paradigmatic GO terms, top: DNA methylation profile across gene body with 30% gene length flank regions. Gray lines: IMU versus KRT significant DMRs. Orange lines: Significant cis-eQTMs overlapped with DMRs, middle: differential 5hmc peaks in IMU versus KRT, bottom: bar plot for subgroups’ log<sub>2</sub>cpm expression value with edgeR FDR values. Color: subgroups.</p>

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