Epic Methylation analysis on Glycogen Storage Disorder type 1a and Healthy Controls fibroblasts

To assess the global differences between samples from the two groups, we used the full dataset of processed probes and initially performed a regression analysis with the aim to assess the in-group variability for each of HC and GSD1a groups tested.

Results from this analysis showed lower variability in the GSD1a group which implies that GSD1a fibroblasts present a methylation phenotype that is consistent between group samples as compared to the HC samples. These differences were also observed by an unsupervised clustering analysis that we performed based on K-means searching for two clusters between our 8 tested samples and by PCA. Differential methylation analysis comparing GSD1a to HC cells was performed.