Cargando…
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...
Autores principales: | Currant, Hannah, Fitzgerald, Tomas W., Patel, Praveen J., Khawaja, Anthony P., Webster, Andrew R., Mahroo, Omar A., Birney, Ewan |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9997913/ https://www.ncbi.nlm.nih.gov/pubmed/36848389 http://dx.doi.org/10.1371/journal.pgen.1010587 |
Ejemplares similares
-
The Role of Chromosome X in Intraocular Pressure Variation and Sex-Specific Effects
por: Simcoe, Mark J., et al.
Publicado: (2020) -
Natural genetic variation quantitatively regulates heart rate and dimension
por: Gierten, Jakob, et al.
Publicado: (2023) -
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism
por: Michaud, Vincent, et al.
Publicado: (2022) -
Separating common from distinctive variation
por: van der Kloet, Frans M., et al.
Publicado: (2016) -
Common genetic variation drives molecular heterogeneity in human iPSCs
por: Kilpinen, Helena, et al.
Publicado: (2017)