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

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...

Full description

Bibliographic Details

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
ISSN:	1367-4811, 1367-4803, 1367-4811
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!