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Li, J.* ; Wang, J.* ; Ibarra Del Rio, I.A. ; Cheng, X.* ; Luecken, M. ; Lu, J.* ; Monavarfeshani, A.* ; Yan, W.* ; Zheng, Y.* ; Zuo, Z.* ; Colborn, S.L.Z.* ; Cortez, B.S.* ; Owen, L.A.* ; Wick, B.* ; Bao, X.* ; Haeussler, M.* ; Tran, N.M.* ; Shekhar, K.* ; Sanes, J.R.* ; Stout, J.T.* ; Chen, S.* ; Li, Y.* ; DeAngelis, M.M.* ; Theis, F.J. ; Chen, R.*

Single-cell atlas of the transcriptome and chromatin accessibility in the human retina.

Nat. Genet. 58, 418–433 (2026)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
Single-cell sequencing has revolutionized the scale and resolution of molecular profiling of tissues and organs. Here we present an integrated dual-modal reference atlas of the most accessible portion of the mammalian central nervous system, the retina. We compiled around 3.9 million cells from 125 donors of diverse ancestral backgrounds, including 8 published studies and 2.7 million unpublished data points, to create a comprehensive human retina cell atlas (HRCA) with more than 130 cell types identified. We annotated each cluster, identified marker genes and characterized cis-regulatory elements and gene regulatory networks. Our analysis uncovered differences in transcriptome, chromatin and gene regulatory networks across cell types. We modeled changes in gene expression and chromatin accessibility across age, ancestry and tissue region. This integrated atlas enhanced the fine-mapping of genome-wide association study and expression quantitative trait loci variants. Accessible through interactive browsers, this multimodal multidonor and multilab HRCA can facilitate a better understanding of retinal function and pathology.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Genome-wide Association; Photoreceptor; Expression; Package; Ancestry; Neurons; Genes
ISSN (print) / ISBN 1061-4036
e-ISSN 1546-1718
Journal Nature Genetics
Quellenangaben Volume: 58, Issue: , Pages: 418–433 Article Number: , Supplement: ,
Publisher Nature Publishing Group
Publishing Place New York, NY
Reviewing status Peer reviewed
Institute(s) Institute of Computational Biology (ICB)
Institute of Lung Health and Immunity (LHI)
Grants Research to Prevent Blindness
National Institutes of Health (NIH)
NIH
NIH/NEI
NIMH BRAIN
CIRM
Gavin Herbert Eye Institute at the University of California, Irvine
Chan Zuckerberg Initiative