Accurate detection of D4Z4 repeats, methylation and allele haplotype in facioscapulohumeral muscular dystrophy 1 using nanopore long-read adaptive sampling sequencing: a pilot study

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Authors: Mingtao Huang, Qinxin Zhang, Sihui Wu, Yixuan Liang, Yan Wang, Zhengfeng Xu, Ping Hu
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  • Published on: July 30 2025
  • Source: Journal of Medical Genetics