Evaluation of CNV detection tools for prenatal diagnosis using amniotic fluid clinical whole-exome sequencing data
These findings contribute to developing more effective and efficient genetic testing strategies in prenatal clinical settings, offering a foundation for future improvements in WES-based CNV detection methods.
Authors
- Rong Zhong (ORCID: https://orcid.org/0000-0002-5060-895X)
- Lijuan Zhong
- Yue Zhang (ORCID: https://orcid.org/0000-0003-0506-409X)
- Yan Jiang (ORCID: https://orcid.org/0000-0002-5877-9286)
- Qi Guo (ORCID: https://orcid.org/0000-0003-2244-2101)
- Hongbo Qi
- Xin Gui
Institutions
- Chongqing Maternal and Child Health Hospital (CN)
- The Affiliated Yongchuan Hospital of Chongqing Medical University (CN)
- Children's Hospital of Chongqing Medical University (CN)
- Chongqing Medical University (CN)
Publication Details
- Journal
- Genomics
- Published
- 2026-01-08
- DOI
- https://doi.org/10.1016/j.ygeno.2026.111196
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.00