Article

Simulation of undiagnosed patients with novel genetic conditions

2022-08-24

Abstract excerpt

Rare Mendelian disorders pose a major diagnostic challenge and collectively affect 300-400 million patients worldwide. Many automated tools aim to uncover causal genes in patients with suspected genetic disorders, but evaluation of these tools is limited due to the lack of comprehensive benchmark datasets that include previously unpublished conditions. Here, we present a computational pipeline that simulates reali...

Topics

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

Identifiers and source

Literature Corpus work: ed2975ea-7909-5f27-8f2f-afe713ff0f94
DOI: 10.1101/2022.08.22.22279073

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Simulation of undiagnosed patients with novel genetic conditionsDOI 10.1101/2022.08.22.22279073Read

Simulation of undiagnosed patients with novel genetic conditions.Semantic proximity Read

GeneBreaker: Variant simulation to improve the diagnosis of Mendelian rare genetic diseases.Semantic proximity Read

GeneBreaker - Variant simulation to improve the diagnosis of Mendelian rare genetic diseasesSemantic proximity Read

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

Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes ProjectSemantic proximity Read

Symptom-driven idiopathic disease gene identification.Semantic proximity Read

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

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

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

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

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.Semantic proximity Read

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.Semantic proximity Read