Fig. 2
From: Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders
Nanopore methylation analysis enables to distinguish disease samples from controls and other diseases samples. UMAP scatter plots (A), hierarchical clustering (B, left part), and heatmaps (B, right part) based on methylation levels at Sotos, Kabuki, Wiedemann-Steiner (WDSTS), and Cornelia de Lange (CdLS) syndromes episignature loci. Nanopore sequencing data of five healthy controls and 11 (seven known and four blinded) patients with one of the four disorders are represented, along with the array-based reference for the respective episignature. Patients sequenced with nanopore cluster in close proximity to their respective array-based episignature reference. Blinded samples can be assigned the correct diagnosis