Article

Single-cell multiome and enhancer connectome of human retinal pigment epithelium and choroid nominate pathogenic variants in age-related macular degeneration

2025-03-25

Abstract excerpt

<h4>SUMMARY</h4> Age-related macular degeneration (AMD) is a leading cause of vision loss worldwide. Genome-wide association studies (GWAS) of AMD have identified dozens of risk loci that may house disease targets. However, variants at these loci are largely noncoding, making it difficult to assess their function and whether they are causal. Here, we present a single-cell gene expression and chromatin accessibili...

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Literature Corpus work: 4ea488e7-8755-5dbd-abff-2fde7530ab7c
DOI: 10.1101/2025.03.21.644670

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