Mutation Spectrum and Novel Rare Variants in a Han Chinese Hearing Loss Cohort Using a Tiered Sequencing Strategy
Yu Zhang, Shimei Yuan, Yafang Wan, Tian Li, Lanlan Xu, Wei Yang, Changchun Niu · 2026
Read Mutation Spectrum and Novel Rare Variants in a Han Chinese Hearing Loss Cohort Using a Tiered Sequencing Strategy by Yu Zhang, Shimei Yuan, Yafang Wan, Tian Li, Lanlan Xu, Wei Yang, Changchun Niu (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-13590426.txt.
Description
Yu Zhang and co-authors chart gene faults behind inherited hearing loss in southwest China in this 2026 study. Inherited deafness can stem from many genes, so finding the exact fault is hard. The team used a tiered plan in forty-three Han Chinese patients: first a quick screen of known hotspots, then full gene reading for those the screen missed.
The screen solved twenty-three cases, with faults in three genes doing most of the work. The deeper reading of eleven patients found six more rare faults across four genes and solved two more cases. One fault had never been reported anywhere, and another had not been seen in Han Chinese patients before. The authors say the tiered plan is a practical route for clinics with limited budgets.
Catalog record
| CREATOR | Yu Zhang, Shimei Yuan, Yafang Wan, Tian Li, Lanlan Xu, Wei Yang, Changchun Niu |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 27 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |