Article

EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders

2021-07-25

Abstract excerpt

<h4>Purpose</h4> The widespread adoption of genomic testing for individuals with ophthalmic disorders has increased demand on diagnostic genomic services for these conditions. Moreover, the clinical utility of a molecular diagnosis for individuals with inherited ophthalmic disorders is increasingly placing pressure on the speed and accuracy of genomic testing. <h4>Methods</h4> We created EyeG2P, a publically avail...

Topics

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

Identifiers and source

Literature Corpus work: 188f9316-bf4e-5846-8f3d-f28dae3067fb
DOI: 10.1101/2021.07.23.21261017

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disordersDOI 10.1101/2021.07.23.21261017Read

EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.Semantic proximity Read

Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE networkSemantic proximity Read

Diagnostic yield of next generation sequencing gene panel assays for early-onset glaucoma in an ethnically diverse population.Semantic proximity Read

VEP-G2P: A Tool for Efficient, Flexible and Scalable Diagnostic Filtering of Genomic VariantsSemantic proximity Read

Phenotype-aware prioritisation of rare Mendelian disease variants.Semantic proximity Read

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.Semantic proximity Read

Aggregated genomic data as cohort-specific allelic frequencies can boost variants and genes prioritization in non-solved cases of inherited retinal dystrophiesSemantic proximity Read

Refining the genetic landscape of anophthalmia and microphthalmia: a comprehensive framework with deep learning and updated gene panelsSemantic proximity Read

Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseasesSemantic proximity Read

The Genetic Landscape and Epidemiological Characteristics of Inherited Retinal Diseases in the Chinese PopulationSemantic proximity Read

Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.Semantic proximity Read

RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs)Semantic proximity Read