MLDP-AS: an optimized next-generation sequencing assay for enhanced detection of technically challenging variants in expanded carrier screening
MLDP-AS integrates detection of multiple complex variants into a single, comprehensive assay, overcoming limitations of conventional NGS. It significantly enhances variant detection and provides an efficient, cost-effective tool for carrier screening in the Chinese population.
Authors
- Ganye Zhao (ORCID: https://orcid.org/0000-0002-7843-4381)
- Junwei Zhu
- Huanyun Li
- Xueyang Zhao
- Yuan Chao
- Jun Feng (ORCID: https://orcid.org/0000-0003-0828-1575)
- Shaojun Li (ORCID: https://orcid.org/0000-0002-3547-915X)
- Xinyu Fu
- Weiqin Tang
- Xiangdong Kong
- Zhenhua Zhao
- Di Wu
Institutions
- Celula (United States) (US)
- First Affiliated Hospital of Zhengzhou University (CN)
Publication Details
- Journal
- Journal of Translational Medicine
- Published
- 2026-02-14
- DOI
- https://doi.org/10.1186/s12967-026-07735-9
- Primary Topic
- Cystic Fibrosis Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 0.00