Fig. 4: Clinical case EpiSign assignment.
From: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
Assessment of the notable clinical cases. (a) Principal component analysis (PCA) plots for Clin136 (no genetic variant identified), Clin6 (no genetic variant identified), and Clin187 (DNMT3A:c.2146G>A [p.Val716Ile]). (b) Corresponding methylation variant pathogenicity (MVP) scores for the notable clinical cases. Both PCA plots and MVP scores provide conclusive evidence for EpiSign classification of these clinical cases.
