Article

Paired DNA and RNA sequencing uncovers common and rare genetic variants regulating gene expression in the human retina

2025-04-26

Abstract excerpt

Genetic disorders impacting vision affect millions of individuals worldwide, including age-related macular degeneration (common) and inherited retinal disorders (rare). There is incomplete understanding of the impact of genetic variation on gene expression in the human retina, and its role in genetic disorders. Through the generation of whole genome sequencing and bulk RNA-sequencing of neurosensory retina (NSR) a...

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Literature Corpus work: c4cfcfde-687d-56b4-ba45-0b5fc979a2c4
DOI: 10.1101/2025.04.25.25326445

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