Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing

FIGURE 1. Visualisation of the alignment gap. The left picture displays the beginning of the alignment gap and the right picture the other end. On both sides, parts of the reads (black horizontal bars) reached into the gap with sequences that do not match the reference sequence (depicted in pink). These sequences (black for the beginning of the gap and beige for the end of the gap) were blasted. They matched sequences from ChrX:75,245,768 to ChrX:75,245,826. Modified from (Zaum, 2019).

FIGURE 2. Sanger confirmation of breakpoints. Sequences form Xq13.3 are depicted in brown, sequences from DMD are depicted in grey. Homologies between all sequences are marked.