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Article

Paired DNA and RNA sequencing uncovers common and rare variation regulating human retinal gene expression.

Nature communications - 26 May 2026

Sampson Jacob, Segrè Ayellet V, Bujakowska Kinga M, Clark Simon J, Bishop Paul N, Haynes Steve, Baralle Diana, Al-Deek Jospin, Holden Stacey, Anderson Beverley, Hayes Andrew, Kemal Rahmat A, Thomas Huw B, O'Keefe Raymond T, Banka Siddharth, Black Graeme C, Sergouniotis Panagiotis I, Ellingford Jamie M

Abstract excerpt

Genetic disorders impacting vision affect millions of individuals worldwide, including age-related macular degeneration (common) and inherited retinal disorders (rare). There is an 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 and...

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Share to DNA Copy Number Variations
Share to Gene Expression Regulation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Quantitative Trait Loci

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Source

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Identifiers

PMID: 42191674
DOI: 10.1038/s41467-026-72979-4
PMCID: PMC13213049

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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