Evidence map›Paper›PMID 42490430›Full record

ArticleScience advances2026

Single-cell analysis of the epigenome and 3D chromatin architecture in the human retina.

Ying Yuan, Pooja Biswas, Nathan R Zemke, Kelsey Dang, Yue Wu, Matteo D'Antonio, Yang Xie, Qian Yang, Keyi Dong, Pik Ki Lau and 17 more

Abstract read
In one paragraph

Article in Science advances, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Variant-to-gene mapping identifiesbioRxiv : the preprint server for biology · 2026
    Article
  2. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

27 authors.

Ying YuanDepartment of Material Science, UC San Diego, La Jolla, CA 92037, USA.ORCID 0009-0004-7515-9216
Pooja BiswasOphthalmology, Shiley Eye Institute, UC San Diego, La Jolla, CA 92037, USA.
Nathan R ZemkeCenter for Epigenomics, UC San Diego, La Jolla, CA 92037, USA.ORCID 0000-0002-6326-5925
Kelsey DangCenter for Epigenomics, UC San Diego, La Jolla, CA 92037, USA.ORCID 0009-0009-0177-3383
Yue WuDepartment of Biological Science, UC San Diego, La Jolla, CA 92037, USA.ORCID 0009-0004-2428-0905
Matteo D'AntonioDepartment of Biomedical Informatics, UC San Diego, La Jolla, CA 92037, USA.
Yang XieDepartment of Cellular and Molecular Medicine, UC San Diego, La Jolla, CA 92037, USA.ORCID 0000-0002-7453-6786
Qian YangCenter for Epigenomics, UC San Diego, La Jolla, CA 92037, USA.ORCID 0009-0004-1911-8874
Keyi DongCenter for Epigenomics, UC San Diego, La Jolla, CA 92037, USA.ORCID 0009-0009-8662-4706
Pik Ki LauCenter for Epigenomics, UC San Diego, La Jolla, CA 92037, USA.
Daofeng LiDepartment of Genetics, The Edison Family Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis, MO 63110, USA.ORCID 0000-0001-7492-3703
Chanrung SengDepartment of Genetics, The Edison Family Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis, MO 63110, USA.
Weronika BartosikCenter for Epigenomics, UC San Diego, La Jolla, CA 92037, USA.ORCID 0009-0007-7724-5216
Justin BuchananCenter for Epigenomics, UC San Diego, La Jolla, CA 92037, USA.ORCID 0000-0001-5904-222X
Lin LinCenter for Epigenomics, UC San Diego, La Jolla, CA 92037, USA.
Ryan LancioneCenter for Epigenomics, UC San Diego, La Jolla, CA 92037, USA.
Kangli WangDepartment of Cellular and Molecular Medicine, UC San Diego, La Jolla, CA 92037, USA.ORCID 0009-0008-0699-0101
Seoyeon LeeDepartment of Cellular and Molecular Medicine, UC San Diego, La Jolla, CA 92037, USA.ORCID 0000-0003-2585-7863
Zane GibbsDepartment of Cellular and Molecular Medicine, UC San Diego, La Jolla, CA 92037, USA.ORCID 0000-0003-0294-1878
Bing YangCenter for Epigenomics, UC San Diego, La Jolla, CA 92037, USA.ORCID 0009-0004-8590-5358
Joseph R EckerGenomic Analysis Laboratory, The Salk Institute for Biological Studies, La Jolla, CA 92037, USA.ORCID 0000-0001-5799-5895
Kelly FrazerDepartment of Pediatrics, University of California, San Diego, La Jolla, CA 92093, USA.ORCID 0000-0002-6060-8902
Ting WangDepartment of Genetics, The Edison Family Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis, MO 63110, USA.ORCID 0000-0002-6800-242X
Sebastian PreisslCenter for Epigenomics, UC San Diego, La Jolla, CA 92037, USA.ORCID 0000-0001-8971-5616
Allen WangCenter for Epigenomics, UC San Diego, La Jolla, CA 92037, USA.ORCID 0000-0001-9870-7888
Radha AyyagariOphthalmology, Shiley Eye Institute, UC San Diego, La Jolla, CA 92037, USA.ORCID 0000-0002-6804-7740
Bing RenDepartment of Cellular and Molecular Medicine, UC San Diego, La Jolla, CA 92037, USA.ORCID 0000-0002-5435-1127

Funding

Vision BiostatisticsP30EY022589 · NEI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Radha Ayyagari · 2012 to 2026
$10.3M
Center for Integrated Multi-modal and Multi-scale Nucleome ResearchUM1HG011585 · NHGRI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI DULAC, CATHERINE, LEIN, ED · 2020 to 2024
$6.7M
Molecular Basis of Hereditary Retinal DegenerationsR01EY021237 · NEI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI AYYAGARI, RADHA · 2011 to 2020
$5.6M
Unraveling the molecular pathology of retinal degeneration through single cell genomicsR01EY031663 · NEI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI AYYAGARI, RADHA, FRAZER, KELLY A · 2021 to 2025
$3.3M
Molecular mechanism underlying late-onset retinal/macular degenerationR01EY030591 · NEI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI AYYAGARI, RADHA · 2020 to 2023
$1.9M
Translational Vision Research Training at UCSDT32EY026590 · NEI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ZANGWILL, LINDA M · 2016 to 2025
$854k
NEI NIH HHS P30 EY022589NEI NIH HHS R01 EY021237NEI NIH HHS R01 EY030591NEI NIH HHS R01 EY031663NEI NIH HHS T32 EY026590NHGRI NIH HHS UM1 HG011585
6 · The paper itself

Abstract

Most genetic risk variants linked to ocular diseases are nonprotein coding and presumably contribute to disease through dysregulation of gene expression; however, understanding their mechanisms has been impeded by incomplete annotation of transcriptional regulatory elements across retinal cell types. To address this, we carried out single-cell multiomics assays to investigate gene expression, chromatin accessibility, DNA methylome, and three-dimensional (3D) chromatin architecture in human retina, macula, and retinal pigment epithelium/choroid. We identified 420,824 unique candidate regulatory elements and characterized their chromatin states in 23 retinal cell types. Comparative analysis of chromatin landscapes between human and mouse retina cells further revealed both evolutionarily conserved and divergent retinal gene-regulatory programs. Leveraging the advancements in deep-learning techniques, we developed sequence-based predictors to interpret noncoding risk variants of retinal diseases. Our study establishes retina-wide, single-cell transcriptome, epigenome, and 3D genome atlases and provides a resource for studying the gene regulatory programs of the human retina and ocular diseases.

Indexed as

ChromatinEpigenesis, GeneticEpigenomeEpigenomicsRetinaSingle-Cell AnalysisAnimalsDNA MethylationGene Expression RegulationHumansMiceMultiomicsSingle-Cell Gene Expression AnalysisChromatin

Identifiers

PMID42490430
PMCPMC13394472

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.