Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Hidden Splicing Variants in Inherited Retinal Degeneration: Discovery and Functional Insight.

Investigative ophthalmology & visual science - 1 Oct 2025

Huang Yu-Shu, Lu Wen-Ting, Chiu I-Hsuan, Chien Pei-Miao, Chen Yu-An, Lin Chien-Yu, Yang Chang-Hao, Yang Chung-May, Lin Chao-Wen, Hsu Jacob Shujui, Chen Pei-Lung, Chen Ta-Ching

Abstract excerpt

Purpose: To enhance the molecular diagnosis of inherited retinal degeneration (IRD) by systematically identifying pathogenic splicing variants and characterizing their transcript-level consequences. Methods: We analyzed 738 IRD families who underwent targeted gene panel sequencing. A splicing variant detection pipeline, integrating two computational algorithms (SpliceAI and dbscSNV_ADA) with functional validation...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Exons
Share to Eye Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Pedigree

Share to Retinal Degeneration

Share to RNA Splicing

Source

Open in PubMed Open full text

Identifiers

PMID: 41060150
DOI: 10.1167/iovs.66.13.12
PMCID: PMC12517372

Genes

EYS

Provenance

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hidden Splicing Variants in Inherited Retinal Degeneration: Discovery and Functional Insight.PMID 41060150Read ↗

Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.Semantic proximity Read ↗

Exonic Variants that Affect Splicing - An Opportunity for "Hidden" Mutations Causing Inherited Retinal Diseases.Semantic proximity Read ↗

Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variantsSemantic proximity Read ↗

Splicing mutations in inherited retinal diseases.Semantic proximity Read ↗

Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders.Semantic proximity Read ↗

Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants.Semantic proximity Read ↗

Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes.Semantic proximity Read ↗

Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort.Semantic proximity Read ↗

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.Semantic proximity Read ↗

Novel Pathogenic Mutations Identified from Whole-Genome Sequencing in Unsolved Cases of Patients Affected with Inherited Retinal Diseases.Semantic proximity Read ↗

Progress and prospects of next-generation sequencing testing for inherited retinal dystrophySemantic proximity Read ↗

Clinical exome sequencing for inherited retinal degenerations at a tertiary care center.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.