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, Xin-Yao Sun, Nana Song, Shanshan Gu, Xue Zhang, Yaya Guo, Xiangzhong Sun, Shiping Chen, Jian Wang, Jiale Xiang
This study uses long-read sequencing to precisely map DMD duplications, improving carrier screening and variant classification for Duchenne muscular dystrophy.
medRxiv · Aug 11, 2025 · PreprintGenetic & Genomic Medicine