Article

GeneBreaker - Variant simulation to improve the diagnosis of Mendelian rare genetic diseases

2020-05-30

Abstract excerpt

Mendelian rare genetic diseases affect 5-10% of the population, and with over 5,300 genes responsible for ~7,000 different diseases, they are challenging to diagnose. The use of whole genome sequencing (WGS) has bolstered the diagnosis rate significantly. Effective use of WGS relies upon the ability to identify the disrupted gene responsible for disease phenotypes. This process involves genomic variant calling and...

Topics

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

Identifiers and source

Literature Corpus work: e491850e-1a8e-5722-8978-5d6d40773b9b
DOI: 10.1101/2020.05.29.124495

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

GeneBreaker - Variant simulation to improve the diagnosis of Mendelian rare genetic diseasesDOI 10.1101/2020.05.29.124495Read

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

Simulation of undiagnosed patients with novel genetic conditionsSemantic proximity Read

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

Genome sequencing as a generic diagnostic strategy for rare diseaseSemantic proximity Read

Genomic reanalysis of a pan-European rare-disease resource yields new diagnosesSemantic proximity Read

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

Rare-disease genetics in the era of next-generation sequencing: discovery to translation.Semantic proximity Read

Challenges in the diagnosis and discovery of rare genetic disorders using contemporary sequencing technologiesSemantic proximity Read

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

GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretationSemantic proximity Read

Effective variant filtering and expected candidate variant yield in studies of rare human diseaseSemantic proximity Read

Clinical long-read genome sequencing for rare disease diagnosticsSemantic proximity Read