Systematic evaluation of whole exome sequencing for copy number variation detection in prenatal diagnosis
Lihua Yu, Rong Hu, Xingwang Wang, Yongchu Liu, Haowen Tan, Haoyu Dou, Yi Kong, Jian Lu, Hongke Ding, Yimo Zeng, Cuize Yao, Li'ai Pan, Shuqi Chen, Yan Zhang, Aihua Yin · 2026
Read Systematic evaluation of whole exome sequencing for copy number variation detection in prenatal diagnosis by Lihua Yu, Rong Hu, Xingwang Wang, Yongchu Liu, Haowen Tan, Haoyu Dou, Yi Kong, Jian Lu, Hongke Ding, Yimo Zeng, Cuize Yao, Li'ai Pan, Shuqi Chen, Yan Zhang, Aihua Yin (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13554711.txt.
Description
Yu and co-authors report, in a research letter, a large check of whole exome sequencing for spotting copy number changes before birth. Clinics now often run a microarray test and sequencing one after another, which costs time in pregnancy care. The team ran both methods in parallel for 3,429 families and built a quality control framework to judge when sequencing-based calls can be trusted.
Sequencing matched the microarray results about 97 percent of the time for clearly harmful changes, and also agreed well on mosaic cases and stretches of identical DNA. Their two quality measures separated good calls from bad with high sensitivity in an independent check of 500 samples. The authors argue that sequencing alone, guarded by these quality rules, can serve as a first-line prenatal test and spare families the slower two-step route.
Catalog record
| CREATOR | Lihua Yu, Rong Hu, Xingwang Wang, Yongchu Liu, Haowen Tan, Haoyu Dou, Yi Kong, Jian Lu, Hongke Ding, Yimo Zeng, Cuize Yao, Li'ai Pan, Shuqi Chen, Yan Zhang, Aihua Yin |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 10 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |