Article

GOLF: A Generative AI Framework for Pathogenicity Prediction of Myocilin OLF Variants

2025-06-24

Abstract excerpt

Missense mutations in the MYOC gene, particularly those affecting the olfactomedin (OLF) domain of the myocilin protein, can be causal for open-angle glaucoma—a leading cause of irre-versible blindness. However, predicting the pathogenicity of these mutations remains challenging due to the complex effects of toxic gain-of-function variants and the scarcity of labeled clinical data. Herein, we present GOLF, a gene...

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Literature Corpus work: 63932e25-0b98-517f-b2ec-f58dc9216327
DOI: 10.1101/2025.06.17.660210

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