DMPK and myotonic dystrophy type 1: Figure 4B shows an example of comparing Cas9-targeted resequencing data (see Methods) (Gilpatrick et al. 2020) for a patient with myotonic dystrophy type 1 (DM1) with a DMPK expansion. PathSTR shows that the DMPK repeat length in this patient is indeed above the pathogenic line and is a length outlier compared with the rest of the cohort (z-score = 9.5).