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Whole-genome sequencing study of 488,888 individuals identifies rare variants and genes associated with glaucoma

2025-06-03

Abstract excerpt

Glaucoma is a leading cause of irreversible blindness worldwide, with primary open-angle glaucoma (POAG) being the most common form. While previous genome-wide association studies have identified common genetic variants associated with POAG, primarily through array-based genotyping and imputation, the role of rare variants remains poorly understood. Our study aims to address this gap in knowledge by conducting the...

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Literature Corpus work
c0ab68db-2776-50f2-a8e9-7810c12d94cb
DOI
10.1101/2025.06.02.25328820
Open publication

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Whole-genome sequencing study of 488,888 individuals identifies rare variants and genes associated with glaucomaDOI 10.1101/2025.06.02.25328820
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