Evidence map›Paper›PMID 39930172›Full record

ReviewAdvances in experimental medicine and biology2025

The Challenge of VUS in Inherited Retinal Degeneration: Insight from Functional Studies.

Laura K Finnegan, Anna R Ridgeway, Naomi Chadderton, G Jane Farrar

Abstract readReview
PubMed Publisher
In one paragraph

Review in Advances in experimental medicine and biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Laura K FinneganSchool of Genetics and Microbiology, Trinity College Dublin, Dublin, Ireland. lafinneg@tcd.ie.
Anna R RidgewaySchool of Genetics and Microbiology, Trinity College Dublin, Dublin, Ireland.
Naomi ChaddertonSchool of Genetics and Microbiology, Trinity College Dublin, Dublin, Ireland.
G Jane FarrarSchool of Genetics and Microbiology, Trinity College Dublin, Dublin, Ireland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Advances in DNA sequencing technologies have resulted in an exponential increase in the identification of genetic variants, accompanied by the challenge of variant interpretation. Variants of uncertain significance (VUS) represent a significant problem in the diagnosis and associated patient care pathways for many conditions including inherited retinal degenerations (IRDs). The scale of the challenge is significant, with >40% of variants in genes associated with IRDs classified as VUS. Functional analyses can clarify the pathogenicity of variants, deepen our understanding of disease mechanisms, and importantly, impact patient care. This mini-review focuses on the application of functional analyses in the interpretation of variants in IRD genes: types of assays used and their utility in understanding pathogenicity.

Indexed as

Genetic VariationMutationRetinal DegenerationGenetic Predisposition to DiseaseHumansACMG/AMP guidelinesFunctional assayInherited retinal degenerationPS3/BS3Variant interpretationVariant of uncertain significanceVUS

Identifiers

PMID39930172

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.