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. 2023 May 29;14:3090. doi: 10.1038/s41467-023-38782-1

Fig. 7. Rare hypermethylation event in a previously undiagnosed repeat expansion.

Fig. 7

A HiFi-genome sequencing (GS) reads across four individuals detecting (1) large (Proband 1), (2 and 3) expanded (Haplotype-resolved, Proband 2 and Proband 3) and (4) no repeats (Haplotype-resolved, Proband 4) at the DIP2B locus. Hap1 denotes haplotype 1 and Hap2 denotes haplotype 2 in respective sample. B CpG modification coloring of HiFi-GS reads (blue indicating unmethylated CpG prediction and red indicating methylated CpG prediction with color intensity corresponding to base modification probabilities) across the four individuals.