Optical genome mapping: Unraveling complex variations and enabling precise diagnosis in dystrophinopathy
OGM is a valuable diagnostic tool for dystrophinopathy patients with negative results from conventional genetic tests. It can effectively elucidate complex SVs and pinpoint breakpoints in X-autosomal translocations in female patients, facilitating prompt and appropriate interventions.
Authors
- Wai‐Yee Chan (ORCID: https://orcid.org/0000-0002-9714-0936)
- Liqin Liu (ORCID: https://orcid.org/0000-0001-7158-6772)
- Jiahui Mai (ORCID: https://orcid.org/0000-0002-1734-8316)
- Jianxiang Liao (ORCID: https://orcid.org/0000-0001-9769-3365)
- Tao Fu (ORCID: https://orcid.org/0000-0003-1783-2631)
- Xiaoyu Chen (ORCID: https://orcid.org/0000-0001-7608-0666)
- Zhuo Li (ORCID: https://orcid.org/0000-0002-9937-2669)
- Feiqiu Wen (ORCID: https://orcid.org/0000-0002-3551-738X)
- Jing Duan (ORCID: https://orcid.org/0000-0001-6502-735X)
- Liang Dong
- Xinguo Lu
- Gang Lu
- Xufeng Luo
Institutions
- Shandong University (CN)
- Chinese University of Hong Kong (HK)
- Chinese University of Hong Kong, Shenzhen (CN)
- Shenzhen Children's Hospital (CN)
Publication Details
- Journal
- Annals of Clinical and Translational Neurology
- Published
- 2024-11-22
- DOI
- https://doi.org/10.1002/acn3.52245
- Citations
- 6
- Primary Topic
- Muscle Physiology and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.40
Funders
- Sanming Project of Medicine in Shenzhen