Single-cell transcriptomic atlas of the human retina identifies cell types associated with age-related macular degeneration

“Genome-wide association studies have identified variants associated with age-related macular degeneration (AMD); however, other than identifying this as a complement mediated inflammatory disease, little biology has emerged. Here, authors used novel computational tools from the Broad Institute to e...

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Autores principales: Madhvi Menon, Shahin Mohammadi, Jose Davila-Velderrain, Brittany A. Goods, Tanina D. Cadwell, Yu Xing, Anat Stemmer-Rachamimov, Alex K. Shalek, John Christopher Love, Manolis Kellis, Brian P. Hafler
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2019
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Acceso en línea:https://doaj.org/article/569a863f6cff4674a0253494b0beaa87
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Sumario:“Genome-wide association studies have identified variants associated with age-related macular degeneration (AMD); however, other than identifying this as a complement mediated inflammatory disease, little biology has emerged. Here, authors used novel computational tools from the Broad Institute to examine the relationship of single-cell transcriptomics and genome-wide association studies (GWAS) in the human retina and demonstrate that GWAS-associated risk alleles associated with AMD are enriched in glia and vascular cells and that human retinal glia are more diverse than previously thought