Fig. 1: HNRNPU-specific methylation episignature.
From: Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome
a The genome-wide methylation episignatures of HNRNPU samples were determined by calculating the mean normalised methylation beta-value relative to the control group. Unsupervised clustering analysis revealed a clear separation between the 7 patients and the control group, with approximately 55% of differentially methylated positions (DMPs) exhibiting hypermethylated profiles and approximately 44% showing hypomethylation. b To eliminate potential biases introduced by normalised data, a PCA clustering analysis was performed based on preprocessed beta-values. The results demonstrated that 227 DMPs were able to effectively differentiate the HNRNPU group from the control group. c Scatter plots were generated by comparing the methylation beta-values of individuals with the mean values of the healthy control group, using a confidence interval of ±3 standard deviations (3 SD). A significant pattern of the number of DMPs with gain of methylation (GOM) compared to loss of methylation (LOM) DMPs was detected (17.6% hypermethylated, 2.08% hypomethylated).
