Accurate detection of D4Z4 repeats, methylation and allele haplotype in facioscapulohumeral muscular dystrophy 1 using nanopore long-read adaptive sampling sequencing: a pilot study
Our LRL-AS method is a comprehensive approach for FSHD1 detection, improving the accuracy of D4Z4 RUs and methylation detection while enabling allele-specific haplotype construction. It holds promising potential for clinical application.
Authors
- Mingtao Huang (ORCID: https://orcid.org/0000-0003-2359-1010)
- Ping Hu (ORCID: https://orcid.org/0000-0002-7297-8847)
- Qinxin Zhang (ORCID: https://orcid.org/0000-0003-3819-5504)
- Sihui Wu
- Zhengfeng Xu (ORCID: https://orcid.org/0000-0002-7824-7578)
- Yixuan Liang (ORCID: https://orcid.org/0009-0002-5532-3061)
- Yan Wang (ORCID: https://orcid.org/0000-0002-5348-4788)
Institutions
- Nanjing Children's Hospital (CN)
- Nanjing Maternity and Child Health Care Hospital (CN)
- Nanjing Medical University (CN)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2025-07-30
- DOI
- https://doi.org/10.1136/jmg-2025-110827
- Primary Topic
- Muscle Physiology and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- National Key Research and Development Program of China