Article

Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes

2024-11-29

Abstract excerpt

<title>Abstract</title> <p>Background The majority of missense variants in clinical genetic tests are classified as variants of uncertain significance. Prior research has shown that the deleterious effects and the subsequent molecular consequence of variants are often conserved among paralogous protein sequences within a gene family. Here, we systematically quantified on an exome-wide scale if the existence of p...

Topics

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

Identifiers and source

Literature Corpus work: e875b5ba-6eec-572b-9386-4ebdd6f23bc5
DOI: 10.21203/rs.3.rs-5434140/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Conserved missense variant pathogenicity and correlated phenotypes across paralogous genesDOI 10.21203/rs.3.rs-5434140/v1Read

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

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

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

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

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

Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypesSemantic proximity Read

Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes.Semantic proximity Read

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

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

Predicting Functional Effects of Missense Variants in Voltage-Gated Sodium and Calcium ChannelsSemantic proximity Read

Informing variant assessment using structured evidence from prior classifications (PS1, PM5, and PVS1 sequence variant interpretation criteria).Semantic proximity Read

Genome-wide analysis of human disease alleles reveals that their locations are correlated in paralogous proteins.Semantic proximity Read