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Article

Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation.

PLoS genetics - 1 Feb 2023

Currant Hannah, Fitzgerald Tomas W, Patel Praveen J, Khawaja Anthony P, Webster Andrew R, Mahroo Omar A, Birney Ewan

Abstract excerpt

Photoreceptor cells (PRCs) are the light-detecting cells of the retina. Such cells can be non-invasively imaged using optical coherence tomography (OCT) which is used in clinical settings to diagnose and monitor ocular diseases. Here we present the largest genome-wide association study of PRC morphology to date utilising quantitative phenotypes extracted from OCT images within the UK Biobank. We discovered 111...

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Identifiers

PMID: 36848389
DOI: 10.1371/journal.pgen.1010587
PMCID: PMC9997913

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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