Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals
This study validated the application of our ECS technique for carrier screening in southern China, identifying carrier status and providing accurate carrier frequencies for hundreds of genetic diseases.
Authors
- Desheng Liang (ORCID: https://orcid.org/0000-0002-9451-8585)
- Zhuo Li (ORCID: https://orcid.org/0000-0001-6010-6139)
- Huimin Zhu
- Lingqian Wu (ORCID: https://orcid.org/0000-0002-7070-5896)
- Hongyun Zhang (ORCID: https://orcid.org/0000-0001-7316-0855)
- Qinlin Huang
- Yanling Teng (ORCID: https://orcid.org/0000-0002-1327-150X)
- Wen Zhang
- Juan Wen
Institutions
- Central South University (CN)
- Hunan Institute of Mental Health (CN)
Publication Details
- Journal
- Human Genomics
- Published
- 2024-10-08
- DOI
- https://doi.org/10.1186/s40246-024-00680-y
- Citations
- 8
- Primary Topic
- Cystic Fibrosis Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 3.35
Funders
- National Natural Science Foundation of China
- Natural Science Foundation of Hunan Province
- State Key Laboratory of Ophthalmology
- Science and Technology Program of Hunan Province
- National Key Research and Development Program of China