Article

Deep-learning-derived glaucoma-related endophenotypes enable novel genome-wide genetic and functional discovery

2025-11-06

Abstract excerpt

The genetic architecture of primary open-angle glaucoma (POAG), a leading cause of irreversible blindness, remains largely unexplained due to the reliance of previous genome-wide association studies (GWAS) on imprecise phenotypes from electronic health records. Here, we overcome this with a disease-trained, task-transfer machine learning (ML) framework that learns glaucoma-related damage patterns from a large clin...

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Literature Corpus work: f264f2be-94b7-5bcc-a401-80e4a2acf8f0
DOI: 10.1101/2025.11.04.25339517

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