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Article

Integration of eQTL and a Single-Cell Atlas in the Human Eye Identifies Causal Genes for Age-Related Macular Degeneration.

Cell reports - 28 Jan 2020

Orozco Luz D, Chen Hsu-Hsin, Cox Christian, Katschke Kenneth J, Arceo Rommel, Espiritu Carmina, Caplazi Patrick, Nghiem Sarajane Saturnio, Chen Ying-Jiun, Modrusan Zora, Dressen Amy, Goldstein Leonard D, Clarke Christine, Bhangale Tushar, Yaspan Brian, Jeanne Marion, Townsend Michael J, van Lookeren Campagne Menno, Hackney Jason A

Abstract excerpt

Age-related macular degeneration (AMD) is a leading cause of vision loss. To better understand disease pathogenesis and identify causal genes in GWAS loci for AMD risk, we present a comprehensive database of human retina and retinal pigment epithelium (RPE). Our database comprises macular and non-macular RNA sequencing (RNA-seq) profiles from 129 donors, a genome-wide expression quantitative trait loci (eQTL)...

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Identifiers

PMID: 31995762
DOI: 10.1016/j.celrep.2019.12.082

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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