Additional file 6 of Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

Additional file 6: Figure S6. DNA methylation pattern analysis excluding samples with missense KMT2B variants yields full sensitivity and specificity in classifying individuals affected by DYT28. Hierarchical clustering analysis (A) and MDS (B) plots are used to classify VUS/and likely pathogenic missense variants (used as the testing set) with respect to pathogenic KMT2B variants in Pt.1-4,6,7 and control samples (used as the training set). (C) A support vector machine (SVM) was used to classify samples and calculate probability scores reaching full sensitivity and specificity for identifying pathogenic KMT2B variants. The classifier was trained using bona fide pathogenic KMT2B variants, controls and other NDDs/RDs. 75% of controls and NDD/RD samples used for training (blue), 25% for testing (grey). Ellipses indicate 95% confidence intervals