Article

Genome-Wide Insights into the Genes and Pathways Shaping Human Foveal Development

2025-06-20

Abstract excerpt

Here we report the first genome-wide association study of foveal pit depth. In a cohort of 61,269 individuals, we identified 123 genome-wide significant loci associated with pit depth, including 47 novel associations not previously linked to macular traits. Using 12 complementary variant-to-gene mapping strategies, we prioritised 128 putative causal genes, 64 of which have not previously been implicated in foveal...

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Literature Corpus work: e41271e8-7832-55fa-ac50-26f2baecb956
DOI: 10.1101/2025.06.18.25329836

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