Genetic discovery using deep learning-derived optic nerve integrity phenotypes
Asma M. Aman, Eslam Zaher, Santiago Díaz‐Torres, Sjoerd J. Driessen, Victor A. de Vries, Frank C. T. van der Heide, Antonia Kolovos, Joshua M. Schmidt, Henry N. Marshall, Lania Saleh, Alicia Schulze, Gabriëlla A.M. Blokland, Carroll A.B. Webers, Carla Kallen, Anke Wesselius, , Puya Gharahkhani
The paper uses AI-derived retinal thickness phenotypes from 2D images to identify novel genetic loci for neurodegenerative diseases.
medRxiv · Sep 10, 2026 · PreprintGenetic & Genomic Medicine