Genetic & Genomic MedicinemedRxivPreprint
Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: high prevalence of non-tandem duplications revealed by long-read sequencing
Qiliang Ding, Jagadheshwar Balan, Noemi Vidal‐Folch…·Linda Hasadsri
This study uses long-read sequencing to re-evaluate the pathogenicity of intragenic DMD duplications, finding that many are non-tandem and likely benign.
DOI 10.1101/2025.04.10.25325596