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Article

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

Journal of medical genetics - 1 Aug 2023

Lenassi Eva, Carvalho Ana, Thormann Anja, Abrahams Liam, Arno Gavin, Fletcher Tracy, Hardcastle Claire, Lopez Javier, Hunt Sarah E, Short Patrick, Sergouniotis Panagiotis I, Michaelides Michel, Webster Andrew, Cunningham Fiona, Ramsden Simon C, Kasperaviciute Dalia, Fitzpatrick David R, Black Graeme C, Ellingford Jamie M

Abstract excerpt

BACKGROUND: Genomic variant prioritisation is one of the most significant bottlenecks to mainstream genomic testing in healthcare. Tools to improve precision while ensuring high recall are critical to successful mainstream clinical genomic testing, in particular for whole genome sequencing where millions of variants must be considered for each patient. METHODS: We developed EyeG2P, a publicly available database...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36669873
DOI: 10.1136/jmg-2022-108618
PMCID: PMC10423522

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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