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

2022-03-16

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 loc...

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Literature Corpus work
a53683dd-e82c-52dd-80be-b9778490d6c1
DOI
10.1101/2022.03.15.22272407
Open publication

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Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variationDOI 10.1101/2022.03.15.22272407
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