Article

Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma

2022-05-19

Abstract excerpt

Primary open-angle glaucoma (POAG), characterized by retinal ganglion cell death, is a leading cause of irreversible blindness worldwide; however, the molecular and cellular causes are not well understood. Elevated intraocular pressure (IOP) is a major risk factor, but many patients have normal IOP. Colocalization and Mendelian randomization analysis of >240 POAG and IOP GWAS loci and of overlapping eQTLs and sQTL...

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Literature Corpus work: 777c0335-bf8a-5925-bd8f-4d932f6f26da
DOI: 10.1101/2022.05.14.22275022

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