We successfully used it on #MiSeq, #PacBio, and #Nanopore datasets from blood samples from people with Huntington’s disease or Fuchs endothelial corneal dystrophy.

It stacks up to other current algorithms but it shines in that it can be used used on data from any of these and from any locus you are interested in.

It also identifies interruptions, both known and unknown and lets you evaluate the extent of repeat size mosaicism.

The code lives here:
https://github.com/DionLab/RepeatDetector