Integrated Genotyping Strategies for Uncovering Detailed Haplotype Structures and Characterization of <i>DMD</i> Duplications
Our findings broaden the molecular spectrum of DMD duplications, highlight their widespread structural complexity, and emphasize the importance of integrating multiple technologies to precisely delineate duplication haplotype structures and assess the pathogenicity of variants with uncertain significance. These findings provide valuable insights for DMD duplication detection, pathogenicity evaluation, and genetic counseling.
Authors
- Juan Geng (ORCID: https://orcid.org/0000-0003-2600-3245)
- Shuyuan Li (ORCID: https://orcid.org/0000-0002-1105-5571)
- Tingting Yu (ORCID: https://orcid.org/0000-0001-6030-9614)
- Rui Xiao (ORCID: https://orcid.org/0000-0003-4178-3497)
- Ruen Yao (ORCID: https://orcid.org/0000-0003-4147-5291)
- Wei Lü (ORCID: https://orcid.org/0000-0001-9859-8394)
- Jian Wang (ORCID: https://orcid.org/0000-0003-3391-5250)
- Qihua Fu
- Niu Li (ORCID: https://orcid.org/0000-0001-6504-7633)
- Jie Tang (ORCID: https://orcid.org/0000-0002-6219-8177)
- Sun Jin (ORCID: https://orcid.org/0000-0002-3123-4630)
Institutions
- University of Electronic Science and Technology of China (CN)
- Shanghai Jiao Tong University (CN)
- Shanghai Mental Health Center (CN)
- Shanghai Children's Medical Center (CN)
- International Peace Maternity & Child Health Hospital (CN)
- National Center on Birth Defects and Developmental Disabilities (US)
- Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital (CN)
- Zhejiang University of Technology (CN)
Publication Details
- Journal
- Clinical Chemistry
- Published
- 2025-11-07
- DOI
- https://doi.org/10.1093/clinchem/hvaf136
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00