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Genome-wide association and multi-omics functional screens reveal the genetic architecture of foveal development

2026-06-12

Abstract excerpt

Foveal hypoplasia causes visual impairment across congenital eye disorders, yet the genetic programmes governing foveal development remain poorly characterised and no tractable model exists for foveal disease. In the first genome-wide association study of foveal hypoplasia, we identified 42 sentinel variants mapping to 54 effector genes supported by ≥ 2 criteria from a variant-to-gene framework incorporating devel...

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Literature Corpus work
689154c4-3fca-50dc-bbd3-aabd9b3c3bd4
DOI
10.64898/2026.06.11.26355452
Open publication

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Genome-wide association and multi-omics functional screens reveal the genetic architecture of foveal developmentDOI 10.64898/2026.06.11.26355452
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