Skip to main content
Fig. 6 | Clinical Epigenetics

Fig. 6

From: Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing

Fig. 6

Multi-sample comparison of long-read methylation profiles. a Principal component analysis (PCA) of the 12 family members of sporadic cases with NOTCH2NLC-related disorders. b Hierarchical clustering analysis (Ward method) of the 12 family members of sporadic cases with NOTCH2NLC-related disorders. c Differentially methylated bases among samples. Pairwise comparison of percent methylation scores between samples are shown. Each dot represents the percent methylation scores of CpG sites at that genomic base position. The simple linear regression line plot in red. Pearson’s r = 0.998, with p-value < 2.2e − 16 (left panel); Pearson’s r = 0.955, with p-value < 2.2e − 16 (right panel). d Differentially methylated regions among samples. Differentially methylated bases are summarized in RepeatMasker annotation context. Percent methylation score of F2-patient was compared to F2-mother (blue open circle) or F2-father (red open triangle). e Schematic representation of differentially methylated region at the NOTCH2NLC region. Long-range methylation analysis can evaluate the methylation status of repetitive elements localized specifically at this region. Asterisk: not studied because of no CpG dinucleotides. Black, blue and yellow rectangles represent (GGC)n/(GGCGGA)n, SINE, and LINE repetitive elements, respectively. Pt patient; Fa father; Mo mother

Back to article page