Family trios/quartets analysis based on the Newborn Genomic Atlas for Thalassemia project in Guangxi
Although routine genetic screening targeting hotspot variants is highly effective, its precision is constrained by strategic and methodological limitations. A comprehensive and accurate LRS-based screening method can serve as a valuable supplement to routine screening, enhancing the precision of thalassemia prevention and management.
Authors
- Yunting Ma
- Qian Tao (ORCID: https://orcid.org/0000-0001-5383-4808)
- Zifeng Cheng (ORCID: https://orcid.org/0000-0002-8486-2614)
- Chunrong Gui
- Xu Zhou (ORCID: https://orcid.org/0000-0002-3489-2807)
- Lixia Zhan (ORCID: https://orcid.org/0009-0005-4845-2748)
- Shihan Feng
- Yan Huang (ORCID: https://orcid.org/0000-0001-7607-9585)
- Baoheng Gui (ORCID: https://orcid.org/0000-0003-2917-2108)
- Wei Wei (ORCID: https://orcid.org/0009-0008-5432-6846)
- Haiyang Zheng
- Hongfei Chen (ORCID: https://orcid.org/0000-0003-0428-244X)
- Hongyi Zhang (ORCID: https://orcid.org/0000-0003-1638-9631)
- Dan Wei (ORCID: https://orcid.org/0000-0001-8038-9068)
- Xianda Wei (ORCID: https://orcid.org/0000-0002-2665-0242)
- Haipeng Qin
- Juliang Liu
- Yanni Wei
Institutions
- Guangxi Medical University (CN)
- Beihai People's Hospital (CN)
Publication Details
- Journal
- BMC Medicine
- Published
- 2025-12-12
- DOI
- https://doi.org/10.1186/s12916-025-04549-2
- Primary Topic
- Hemoglobinopathies and Related Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00