Accurate prenatal diagnosis of facioscapulohumeral muscular dystrophy 1 using nanopore sequencing
Nanopore sequencing proves to be an accurate and direct method for genetic testing of monogenic diseases at the single-nucleotide level. This study represents the first application of nanopore sequencing in the prenatal diagnosis of FSHD1, providing a significant advantage for patients with de novo mutations.
Authors
- Zhenhua Zhao (ORCID: https://orcid.org/0000-0001-8952-8677)
- Xiangdong Kong (ORCID: https://orcid.org/0000-0003-0030-7638)
- Fei Meng
Institutions
- Shanxi Medical University (CN)
- Second Hospital of Shanxi Medical University (CN)
- First Affiliated Hospital of Zhengzhou University (CN)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2024-10-26
- DOI
- https://doi.org/10.1136/jmg-2023-109832
- Citations
- 1
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.44
Funders
- Natural Science Foundation of Henan Province