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

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

Nature communications - 25 Feb 2026

Blakes Alexander J M, Whiffin Nicola, Johnson Colin A, Ellingford Jamie M, Banka Siddharth

Abstract excerpt

Reliably predicting the molecular impact of premature termination codons (PTCs) is essential for the clinical interpretation of "loss-of-function" variants in human disease. Measures of selective constraint can identify genes and genomic regions which are intolerant to deleterious genetic variation. However, existing loss-of-function constraint metrics do not comprehensively account for nonsense-mediated mRNA...

Read the complete abstract on PubMed

Topics

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

Share to Codon, Nonsense
Share to Frameshift Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Diseases, Inborn

Share to Genetic Predisposition to Disease

Share to Nonsense Mediated mRNA Decay

Source

Open in PubMed Open full text

Identifiers

PMID: 41741456
DOI: 10.1038/s41467-026-69983-z
PMCID: PMC13043745

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

Regional nonsense constraint offers biological and clinical insights into genetic disease.PMID 41741456Read ↗

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

Integrating 730,947 exome sequences with clinical literature improves gene discoverySemantic proximity Read ↗

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

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

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

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

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

Genetic constraint at single amino acid resolution improves missense variant prioritisation and gene discoverySemantic proximity Read ↗

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

A deep catalog of protein-coding variation in 985,830 individualsSemantic proximity Read ↗

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

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

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