Applying the National Genomic <scp>DNA</scp> Reference Materials to Evaluate the Performance of Nanopore Sequencing in Identifying Thalassemia Variants
Overall, our study proved that the reference materials can be used to evaluate the performance of nanopore sequencing in identifying thalassemia mutations, and it is necessary to incorporate triplications when utilizing reference materials for performance evaluation of long-read sequencing. The consistent and robust performance of nanopore sequencing in this study demonstrates its potential as a reliable method for comprehensive variant detection in thalassemia and other genetic diseases diagnosis.
Authors
- Guojun Ouyang
- Xingyu Wei (ORCID: https://orcid.org/0000-0001-6603-2636)
- Xuexi Yang (ORCID: https://orcid.org/0000-0002-3513-6501)
- Li Zhang (ORCID: https://orcid.org/0000-0002-7079-8308)
- Fang Yang (ORCID: https://orcid.org/0000-0002-2708-3913)
- Shoufang Qu (ORCID: https://orcid.org/0000-0002-7202-7160)
- Xu Yang (ORCID: https://orcid.org/0000-0003-2242-670X)
- Wanqing Han
Institutions
- Zhujiang Hospital (CN)
- National Institutes for Food and Drug Control (CN)
- Southern Medical University (CN)
Publication Details
- Journal
- Journal of Clinical Laboratory Analysis
- Published
- 2025-05-20
- DOI
- https://doi.org/10.1002/jcla.70044
- Citations
- 1
- Primary Topic
- Cancer Genomics and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.94
Funders
- Guangzhou Science and Technology Program key projects
- Guangzhou Municipal Science and Technology Project
- Science and Technology Planning Project of Guangdong Province
- Basic and Applied Basic Research Foundation of Guangdong Province