From enrichment to interpretation: PS4-driven reclassification in Taiwanese inherited retinal degeneration.

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Title: From enrichment to interpretation: PS4-driven reclassification in Taiwanese inherited retinal degeneration.
Authors: Huang YS; Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan.; Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan., Lin CY; Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.; Department of Computing and Data Sciences, Boston University, Boston, Massachusetts, USA., Chen YA; Department of Medical Research, National Taiwan University Hospital Hsin-Chu Branch, Hsinchu, Zhubei City, 302058, Taiwan.; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, Medical College, National Taiwan University, Taipei, Taiwan., Lee CY; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, Medical College, National Taiwan University, Taipei, Taiwan., Yang CH; Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.; Department of Ophthalmology, College of Medicine, National Taiwan University, Taipei, Taiwan., Hsu JS; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, Medical College, National Taiwan University, Taipei, Taiwan., Chen TC; Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan. tachingchen1@ntu.edu.tw.; Center of Frontier Medicine, National Taiwan University Hospital, Taipei, Taiwan. tachingchen1@ntu.edu.tw.; Research Center for Developmental Biology and Regenerative Medicine, National Taiwan University, Taipei, Taiwan. tachingchen1@ntu.edu.tw.; Department of Medical Research, National Taiwan University Hospital, Taipei, Taiwan. tachingchen1@ntu.edu.tw., Chen PL; Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan. paylong@ntu.edu.tw.; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, Medical College, National Taiwan University, Taipei, Taiwan. paylong@ntu.edu.tw.; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan. paylong@ntu.edu.tw.
Source: Human genomics [Hum Genomics] 2026 Feb 15; Vol. 20 (1). Date of Electronic Publication: 2026 Feb 15.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1479-7364
DOI:10.1186/s40246-026-00923-0