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. 2023 Apr 21;14:1145285. doi: 10.3389/fgene.2023.1145285

FIGURE 4.

FIGURE 4

DMPK heterozygous STR expansion. Long reads WGS sequencing of sample NA05164 (repeat count 21/340 per Coriell repository information). (A) Alignment view of the STR region. Each thick gray horizontal line represents a separate read, with purple rectangles with numbers indicating insertions of the corresponding length (in bp). Top of the panel represents a local coverage depth. Purple triangles above the reads indicate the locations of the insertions. Reads with long insertion correspond to a pathogenic expanded repeat; (B, C) Examples of the sequence of the reads around the STR region (underlined): expanded pathogenic allele (313 CAG +21 interrupting repeats, panel (B) and normal allele (panel C).