Article

predNMD: prediction of nonsense-mediated mRNA decay for improved clinical variant pathogenicity classification

2026-06-23

Abstract excerpt

The clinical consequence of a stop-gain variant depends on whether it ablates protein production by triggering nonsense-mediated mRNA decay (NMD) or yields truncated protein with residual, dominant-negative, or gain-of-function activity. This distinction is the key branch-point in applying PVS1, the strongest ACMG/AMP pathogenic evidence criterion. Current PVS1 guidelines and proposed SVC v4.0 successors risk unwa...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: d7f747c5-d064-51a6-a4b3-468f908baef4
DOI: 10.64898/2026.06.20.733449

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

predNMD: prediction of nonsense-mediated mRNA decay for improved clinical variant pathogenicity classificationDOI 10.64898/2026.06.20.733449Read

Clinical significance of mRNA nonstop decay in rare disease diagnosis and recommendations for its application in variant classificationSemantic proximity Read

Unveiling the Hidden Rules: Enhancing NMD Prediction for Protein-Truncating VariantsSemantic proximity Read

Genomic stop codon scanning reveals quantitative principles of nonsense-mediated mRNA decaySemantic proximity Read

Evaluating ClinGen variant curation expert panels' application of PVS1 code.Semantic proximity Read

From mutation to degradation: predicting nonsense-mediated mRNA decay with NMDap.Semantic proximity Read

StopKB: a comprehensive knowledgebase for nonsense suppression therapies.Semantic proximity Read

A predictive framework for stop-loss variants with C-terminal extensionsSemantic proximity Read

aenmd: Annotating escape from nonsense-mediated decay for transcripts with protein-truncating variantsSemantic proximity Read

Refinement of the clinical variant interpretation framework by statistical evidence and machine learning.Semantic proximity Read

Quantitative prediction of nonsense-mediated mRNA decay across human genes by genomic language model and large-scale mutational scanningSemantic proximity Read

Systematic analysis of nonsense variants uncovers peptide release rate as a novel modifier of nonsense-mediated mRNA decaySemantic proximity Read

NMDtxDB: Data-driven identification and annotation of human NMD target transcriptsSemantic proximity Read