Genetic & Genomic MedicinemedRxivPreprint
High-resolution mapping of DMD duplications using long-read sequencing enables precise carrier screening for Duchenne muscular dystrophy
H. J. Yang, Yanling Dong, Zhigang Wang…·Jiale Xiang
This study uses long-read sequencing to precisely map DMD duplications, improving carrier screening and variant classification for Duchenne muscular dystrophy.
DOI 10.1101/2025.08.11.25333458