Article

aenmd: Annotating escape from nonsense-mediated decay for transcripts with protein-truncating variants

2023-03-21

Abstract excerpt

<h4>Summary: </h4> DNA changes that cause premature termination codons (PTCs) represent a large fraction of clinically relevant pathogenic genomic variation. Typically, PTCs induce a transcript's degradation by nonsense-mediated mRNA decay (NMD) and render such changes loss-of-function alleles. However, certain PTC-containing transcripts escape NMD and can exert dominant-negative or gain-of-function (DN/GOF) effec...

Topics

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

Identifiers and source

Literature Corpus work: 4ad541b3-8729-518e-84be-e7935b2a406b
DOI: 10.1101/2023.03.17.533185

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

aenmd: Annotating escape from nonsense-mediated decay for transcripts with protein-truncating variantsDOI 10.1101/2023.03.17.533185Read

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

Phase Separation Contributes to Pathogenicity for Nonsense Mediated Decay-Escaping Variant AllelesSemantic proximity Read

Regional nonsense constraint offers clinical and biological insights into rare genetic disordersSemantic proximity Read

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles.Semantic proximity Read

predNMD: prediction of nonsense-mediated mRNA decay for improved clinical variant pathogenicity classificationSemantic proximity Read

The rules and impact of nonsense-mediated mRNA decay in human cancers.Semantic proximity Read

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

Analysis of Premature Termination Codons Predicted to Escape Nonsense Mediated Decay Identifies Novel Genes, Pathways, and Networks Contributing to an Oligogenic Etiology of Congenital Heart DiseaseSemantic proximity Read

Regional nonsense constraint offers biological and clinical insights into genetic disease.Semantic proximity Read

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

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

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