Autoencoder-based phenotyping of ophthalmic images highlights genetic loci influencing retinal morphology and provides informative biomarkers

• Published in: Bioinformatics (Oxford, England) Vol. 41; no. 1
• Main Authors: Sergouniotis, Panagiotis I, Diakite, Adam, Gaurav, Kumar, Birney, Ewan, Fitzgerald, Tomas
• Format: Journal Article
• Language: English
• Published: England Oxford University Press 26.12.2024
• Subjects: Autoencoder; Biomarkers; Deep Learning; Genetic Loci; Genome-Wide Association Study; Humans; Male; Original Paper; Phenotype; Retina - diagnostic imaging; Tomography, Optical Coherence

Motivation Genome-wide association studies (GWAS) have been remarkably successful in identifying associations between genetic variants and imaging-derived phenotypes. To date, the main focus of these analyses has been on established, clinically-used imaging features. We sought to investigate if deep...