Evaluating the efficiency of nanopore adaptive sampling sequencing in detecting balanced translocation
Nanopore adaptive sampling sequencing enables high-resolution, cost-effective detection of submicroscopic BTs, offering a practical alternative to whole-genome long-read sequencing. This clinical workflow is suitable for cases in which candidate BT regions have been indicated by prior genetic testing.
Authors
- Yi Ling Lai (ORCID: https://orcid.org/0000-0003-4412-2707)
- Meng Gao (ORCID: https://orcid.org/0009-0004-2208-4142)
- Jiemei Zheng
- Yi-Xiang Wang (ORCID: https://orcid.org/0000-0002-4021-4228)
- Xijing Liu
- Han Chen
- J. Ren
- Shanling Liu
- Ting Hu
- Cuiting Peng
- Xinlian Chen
Institutions
- Sichuan University (CN)
- West China Second University Hospital of Sichuan University (CN)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2026-02-25
- DOI
- https://doi.org/10.1136/jmg-2025-111347
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.00