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

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 morpho...

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Bibliographic Details
Main Authors: Hannah Currant, Tomas W Fitzgerald, Praveen J Patel, Anthony P Khawaja, UK Biobank Eye and Vision Consortium, Andrew R Webster, Omar A Mahroo, Ewan Birney
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2023-02-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1010587