Article

Variant annotation across homologous proteins (“Paralogue Annotation”) identifies disease-causing missense variants with high precision, and is widely applicable across protein families

2023-08-07

Abstract excerpt

<h4>Background</h4> Distinguishing pathogenic variants from those that are rare but benign remains a key challenge in clinical genetics, especially for variants not previously observed and characterised in humans. In vitro and in vivo functional characterisation are typically resource intensive, and model systems may not accurately predict influence on human disease. Many in silico tools have been developed to...

Topics

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

Identifiers and source

Literature Corpus work: fb3ae666-a0cc-5c0d-853b-b1afcae83ab4
DOI: 10.1101/2023.08.07.552236

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Variant annotation across homologous proteins (“Paralogue Annotation”) identifies disease-causing missense variants with high precision, and is widely applicable across protein familiesDOI 10.1101/2023.08.07.552236Read

Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.Semantic proximity Read

Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.Semantic proximity Read

Conserved missense variant pathogenicity and correlated phenotypes across paralogous genesSemantic proximity Read

Pathogenic paralogous variants can be used to apply the ACMG PS1 and PM5 variant interpretation criteriaSemantic proximity Read

Annotating pathogenic non-coding variants in genic regions.Semantic proximity Read

Gene family information facilitates variant interpretation and identification of disease-associated genesSemantic proximity Read

Identification of pathogenic variant enriched regions across genes and gene families.Semantic proximity Read

Extracting and calibrating evidence of variant pathogenicity from population biobank dataSemantic proximity Read

Identification of pathogenic variant enriched regions across genes and gene familiesSemantic proximity Read

Extracting and calibrating evidence of variant pathogenicity from population biobank data.Semantic proximity Read

VarPPUD: Variant post prioritization developed for undiagnosed genetic disordersSemantic proximity Read