Fig. 1

Aberrant DNA methylation in primary myelofibrosis. a Multidimensional scaling plot of DNA methylation profiles in PMF patients with different driver mutations (JAK2, CALR, MPL) and healthy controls (812,274 CpGs). b Scatter plot of mean methylation beta values of PMF patients and healthy controls. Significant hypo- and hypermethylated CpGs are indicated in blue and red (mean DNAm difference > 20%; adjusted p-values < 0.05). Gray numbers indicate all CpGs exceeding the mean DNAm difference > 20%, irrespective of statistical significance. c, d) Enrichment analysis of significant hyper- and hypomethylated CpGs in PMF patients in c genomic regions and d) CpG islands (Hypergeometric distribution: * = p < 0.05, # = p < 10^–10, + = p < 10^–20, and $ = p < 10^–100. e Differential mean DNAm of CpGs adjacent to all significant hypermethylated and hypomethylated CpGs (1 kb window). f Comparison of DNA methylation and gene expression changes (GSE26049) between PMF patients and healthy controls, with genes showing significant differences in both categories highlighted