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Article

Gene and phenome-based analysis of the shared genetic architecture of eye diseases.

American journal of human genetics - 6 Feb 2025

Scalici Alexandra, Miller-Fleming Tyne W, Shuey Megan M, Baker James T, Betti Michael, Hirbo Jibril, Knapik Ela W, Cox Nancy J

Abstract excerpt

While many eye disorders are linked through defects in vascularization and optic nerve degeneration, genetic correlation studies have yielded variable results despite shared features. For example, glaucoma and myopia both share optic neuropathy as a feature, but genetic correlation studies demonstrated minimal overlap. By leveraging electronic health record (EHR) resources that contain genetic variables such as...

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Identifiers

PMID: 39879988
DOI: 10.1016/j.ajhg.2025.01.004
PMCID: PMC11866973

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