From enrichment to interpretation: PS4-driven reclassification in Taiwanese inherited retinal degeneration
An ancestry-aware case-control framework enables effective implementation of PS4 and improves the accuracy of IRD variant classification. This reproducible strategy supports the integration of population-specific genomic data into clinical workflows and is applicable to other monogenic disorders.
Authors
- P. H. Chen
- Chieh-Yu Lee (ORCID: https://orcid.org/0000-0002-1942-4335)
- Cindy Lin (ORCID: https://orcid.org/0000-0003-2379-7369)
- Yuan Chen (ORCID: https://orcid.org/0009-0005-1677-1146)
- Chang-Hao Yang
- Ta-Ching Chen
Institutions
- Boston University (US)
- National Taiwan University (TW)
- Taipei Medical University Hospital (TW)
- University of Massachusetts Boston (US)
- National Taiwan University Hospital (TW)
- Taipei Medical University (TW)
- National Chengchi University (TW)
Publication Details
- Journal
- Human Genomics
- Published
- 2026-02-15
- DOI
- https://doi.org/10.1186/s40246-026-00923-0
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00