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

Fig. 2. HiFi-genome sequencing (GS) in a myotonic dystrophy type 1 (DM1) patient with DMPK repeat.

Fig. 2

Genomic view of 1.5 kb on chromosome 19 at the DMPK locus showing an individual with the autosomal dominant disorder DM1. A Haplotype-resolved raw HiFi-GS reads identifying “soft-clipped” reads (i.e., reads with red ends indicative of sequence not matching the reference) and variable-sized insertion (4823–5190 bp) on haplotype 1 (Hap2) and a 45 bp deletion on haplotype 2 (Hap2). B Haplotype-resolved HiFi-GS reads with CpG modification coloring (blue indicating unmethylated CpG prediction and red indicating methylated CpG prediction with color intensity corresponding to base modification probabilities). Soft-clipped and insertion (expansion) spanning reads show consistent hypermethylation flanking the disease allele.