Genetic & Genomic MedicinemedRxivPreprint
Medically relevant tandem repeats in nanopore sequencing of control cohorts
Wouter De Coster, Ida Höijer, Inge Bruggeman…·Rosa Rademakers
The paper introduces PathSTR, a tool for analyzing tandem repeats using long-read sequencing, and demonstrates its application in a Myotonic Dystrophy type 1 case.
2 citations