Article

Network-based pathogenicity prediction for variants of uncertain significance

2021-07-16

Abstract excerpt

<h4>Summary</h4> While the number of genome sequences continues to increase, the functions of many detected gene variants remain to be identified. These variants of uncertain significance constitute a major barrier to precision medicine 1–3 . Although many computational methods have been developed to predict the function of these variants, they all rely on individual gene features and do not consider complex mol...

Topics

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

Identifiers and source

Literature Corpus work: 1f377d73-552a-5958-99ff-f89fdd07d052
DOI: 10.1101/2021.07.15.452566

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Network-based pathogenicity prediction for variants of uncertain significanceDOI 10.1101/2021.07.15.452566Read

A global survey of System Biology-based predictions of gene-rare disease associations to enhance new diagnosesSemantic proximity Read

A global survey of systems biology-based predictions of gene-rare disease associations to enhance new diagnoses.Semantic proximity Read

OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variantsSemantic proximity Read

Informing Variant Assessment using Structured Evidence from Prior Classifications (PS1, PM5, and PVS1 Sequence Variant Interpretation Criteria)Semantic proximity Read

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

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

Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature setSemantic proximity Read

DITTO: An explainable machine-learning model for transcript- specific variant pathogenicity predictionSemantic proximity Read

Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing datasetsSemantic proximity Read

Improving the diagnostic yield of exome-sequencing, by predicting gene-phenotype associations using large-scale gene expression analysisSemantic proximity Read

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.Semantic proximity Read

Pathogenic variations illuminate functional constraints in intrinsically disordered proteinsSemantic proximity Read