Application and clinical utility assessment of natural language processing-based software for copy-number variants interpretation
Applying CNV interpretation software such as CNVisi with clinical utility can reduce the burden of genetic experts and improve the efficiency of CNV interpretation.
Authors
- Yuexin Xu (ORCID: https://orcid.org/0000-0002-7140-6505)
- Yunshuang Li (ORCID: https://orcid.org/0000-0002-0941-4061)
- Weihui Shi
- F Zhang
- Chenming Xu (ORCID: https://orcid.org/0000-0003-0433-8909)
- Songchang Chen
- Xuanyou Zhou
- Chang Liu (ORCID: https://orcid.org/0000-0001-5144-1736)
- Yuling Wang (ORCID: https://orcid.org/0000-0003-3627-7397)
- X. Luan
Institutions
- Berry Oncology (China) (CN)
- Obstetrics and Gynecology Hospital of Fudan University (CN)
Publication Details
- Journal
- Journal of Translational Medicine
- Published
- 2025-10-03
- DOI
- https://doi.org/10.1186/s12967-025-07063-4
- Citations
- 1
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.82
Funders
- National Natural Science Foundation of China