Article

Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project

2023-08-04

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> A major obstacle faced by rare disease families is obtaining a genetic diagnosis. The average “diagnostic odyssey” lasts over five years, and causal variants are identified in under 50%. The Rare Genomes Project (RGP) is a direct-to-participant research study on the utility of genome sequencing (GS) for diagnosis and gene discovery. Families are consented for sharing of sequen...

Topics

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

Identifiers and source

Literature Corpus work: acaea9ad-3d1e-579c-9153-1e04c9778d22
DOI: 10.1101/2023.08.02.23293212

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes ProjectDOI 10.1101/2023.08.02.23293212Read

Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.Semantic proximity Read

VarSight: Prioritizing Clinically Reported Variants with Binary Classification AlgorithmsSemantic proximity Read

Predicting molecular events underlying rare diseases using variant annotation, aberrant gene expression events, and human phenotype ontologySemantic proximity Read

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and GenomiserSemantic proximity Read

Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare disease.Semantic proximity Read

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser.Semantic proximity Read

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

Explicable prioritization of genetic variants by integration of rule-based and machine learning algorithms for diagnosis of rare Mendelian disorders.Semantic proximity Read

Missing genetic diversity impacts variant prioritisation for rare disordersSemantic proximity Read

Matching whole genomes to rare genetic disorders: Identification of potential causative variants using phenotype-weighted knowledge in the CAGI SickKids5 clinical genomes challengeSemantic proximity Read

Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases.Semantic proximity Read

Phenotype-first patient matching with SimPheny identifies diagnostic candidates beyond curated gene associationsSemantic proximity Read