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Fig. 4 | Clinical Epigenetics

Fig. 4

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

Fig. 4

Detailed DNA methylation landscape of the NOTCH2NLC region by nanopore sequencing. a Haplotype-resolved methylation analysis of the 4-kb NOTCH2NLC region in the F2 family. Blue: unmethylated CpG; red: methylated CpG. Representative reads with hypo- and hyper-methylated expansion alleles, indicating epigenetic mosaicism, are shown in the lower inset (dashed-square). b DNA methylation status within the NOTCH2NLC repeat. Reads were sorted by read strand. + : forward reads ( +); − : reverse reads ( −). c DNA methylation status of transitional zones. Long-range methylation information of individual Nanopore reads was visualized with the IGV bisulfite mode. Chromosome positions are according to the hg38 assembly. Pt patient; Fa father; Mo mother. Black, green, blue and yellow rectangles represent (GGC)n/(GGCGGA)n, CpG island, SINE and LINE, respectively, from UCSC genome browser

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