Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases
Our findings demonstrate that LRS is an effective tool for detecting atypical mutations. The identification of SRS at the breakpoints in DMD patients enhances our understanding of the mechanisms underlying structural variations, thereby facilitating the exploration of potential treatments.
Authors
- Xiaoping Luo (ORCID: https://orcid.org/0000-0002-3748-4817)
- Tian Yu (ORCID: https://orcid.org/0000-0002-2443-9961)
- Yan Liu (ORCID: https://orcid.org/0000-0002-9904-4438)
- Hongling Wang
- Liqing Chen (ORCID: https://orcid.org/0000-0002-4857-2097)
Institutions
- Grandomics (China) (CN)
- Tongji Hospital (CN)
- Huazhong University of Science and Technology (CN)
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2024-09-09
- DOI
- https://doi.org/10.1186/s12920-024-01997-2
- Citations
- 4
- Primary Topic
- Muscle Physiology and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.94
Funders
- Natural Science Foundation of Hubei Province