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Article

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

Human genomics - 15 Feb 2026

Huang Yu-Shu, Lin Chien-Yu, Chen Yu-An, Lee Chieh-Yu, Yang Chang-Hao, Hsu Jacob Shujui, Chen Ta-Ching, Chen Pei-Lung

Abstract excerpt

BACKGROUND: Inherited retinal degeneration (IRD) comprises a diverse group of monogenic disorders characterized by marked genetic and phenotypic heterogeneity. Although next-generation sequencing (NGS) enables the identification of candidate variants, many remain classified as variants of uncertain significance (VUS). Ancestry-matched population data can strengthen comparative evidence, and the emergence of...

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Identifiers

PMID: 41692763
DOI: 10.1186/s40246-026-00923-0
PMCID: PMC13011756

Genes

CFAP410
CNGB1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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