Figure 4.
Investigating the role in disease of tandem repeat length variation in DMD and DM1 (A) The repeat length in the DMD gene shows that many individuals in the general population have lengths above the proposed pathogenic length at 59 bp (red dotted line), suggesting it is not pathogenic. As DMD is on the X Chromosome, female samples have twice as many alleles as men. (B) Length visualization of the DMPK repeat, showing the uploaded data of the DM1 patient obtained using Cas9-enrichment, with the pathogenic cutoff indicated with a red dotted line.
