Fig. 2.

DNA methylation pattern analysis yields full sensitivity and specificity in classifying individuals affected by DYT28. Hierarchical clustering analysis (A) and MDS (B) plots are used to classify VUS (used as the testing set) with respect to pathogenic KMT2B variants and control samples (used as the training set). C A support vector machine (SVM) was used to classify samples and calculate probability scores reaches full sensitivity and specificity for KMT2B variants. The classifier was trained using pathogenic 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 interval