The cryptic complex rearrangements involving the DMD gene: etiologic clues about phenotypical differences revealed by optical genome mapping
Validating breakpoint and rearrangement pattern is crucial for the functional annotation and pathogenic classification of genomic structural variations. OGM provides valuable insights into etiological analysis of DMD/BMD and enhances our understanding for cryptic effects of complex rearrangements.
Authors
- Shaoke Chen
- Yunting Ma
- Zifeng Cheng (ORCID: https://orcid.org/0000-0002-8486-2614)
- Meizhen Shi
- Chunrong Gui
- Baoheng Gui (ORCID: https://orcid.org/0000-0003-2917-2108)
- Yan Huang (ORCID: https://orcid.org/0000-0002-1078-3366)
- Haiyang Zheng
- He Junfang
- Xu Zhou (ORCID: https://orcid.org/0000-0002-0510-6395)
- Jiefeng Luo
- Lilin Wei
- Xianda Wei (ORCID: https://orcid.org/0000-0002-2665-0242)
- Xiaoyun Lei
- Bobo Xie
Institutions
- Guangxi Medical University (CN)
- Guilin Medical University (CN)
Publication Details
- Journal
- Human Genomics
- Published
- 2024-09-16
- DOI
- https://doi.org/10.1186/s40246-024-00653-1
- Citations
- 4
- Primary Topic
- Muscle Physiology and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.94
Funders
- National Natural Science Foundation of China