Insights into human health from phenome- and genome-wide analyses of UK Biobank retinal optical coherence tomography phenotypes.

Seyedeh Maryam ZekavatSaman Doroodgar JorsheryYusrah ShweikhKatrin HornFranziska G RauscherSayuri SekimitsuSatoshi KayomaYixuan YeVineet RaghuHongyu ZhaoMarzyeh GhassemiTobias ElzeAyellet V SegrèJaney L WiggsMarkus ScholzLucian Del PrioreJay C WangPradeep NatarajanNazlee Zebardast

Published in: medRxiv : the preprint server for health sciences (2023)

Phenome- and genome-wide associations of retinal OCT images across nearly 50,000 individuals identifies ocular and systemic phenotypes linked to retinal layer thinning, inherited genetic variants linked to retinal layer thickness, and putative causal links between systemic conditions, retinal layer thickness, and ocular disease.

Keyphrases

optical coherence tomography
genome wide
optic nerve
diabetic retinopathy
human health
dna methylation
climate change
copy number
machine learning
cross sectional
gene expression