Targeted long-read sequencing facilitates effective carrier screening for complex monogenic diseases including spinal muscular atrophy, α-/β-thalassemia, 21-hydroxylase deficiency, and fragile-X syndrome
Comprehensive carrier screening for high-prevalent diseases had higher clinical utility than expanding the list of low-prevalent diseases. Incorporating LRS into the NGS carrier screening strategy would facilitate more effective carrier screening.
Authors
- Xu Han (ORCID: https://orcid.org/0000-0002-7864-4004)
- Yan Kang Xu (ORCID: https://orcid.org/0000-0002-8632-4270)
- Aiping Mao (ORCID: https://orcid.org/0000-0002-3260-8737)
- Wanli Meng
- Renyi Hua (ORCID: https://orcid.org/0000-0002-6556-737X)
- Xiaogang Li (ORCID: https://orcid.org/0000-0001-9255-7559)
- Jian Wang (ORCID: https://orcid.org/0000-0003-4949-4753)
- Shuyuan Li (ORCID: https://orcid.org/0000-0002-8160-1363)
- Ruiyu Ma
- Li Gao
- Yanlin Wang (ORCID: https://orcid.org/0000-0003-1600-966X)
Institutions
- Shanghai University (CN)
- Shanghai Jiao Tong University (CN)
- Ministry of Agriculture (BW)
- International Peace Maternity & Child Health Hospital (CN)
- Berry Oncology (China) (CN)
Publication Details
- Journal
- Journal of Translational Medicine
- Published
- 2025-03-11
- DOI
- https://doi.org/10.1186/s12967-025-06345-1
- Citations
- 6
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 10.90
Funders
- National Natural Science Foundation of China