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单细胞组学时代的细胞本体论。

The Cell Ontology in the age of single-cell omics.

作者信息

Tan Shawn Zheng Kai, Puig-Barbe Aleix, Goutte-Gattat Damien, Eastwood Caroline, Aevermann Brian, Avola Alida, Balhoff James P, Bayindir Ismail Ugur, Belfiore Jasmine, Caron Anita Reane, Fischer David S, George Nancy, Gyori Benjamin M, Haendel Melissa A, Hoyt Charles Tapley, Kir Huseyin, Lubiana Tiago, Matentzoglu Nicolas, Overton James A, Peng Beverly, Peters Bjoern, Quardokus Ellen M, Ray Patrick L, Roncaglia Paola, Rivera Andrea D, Stefancsik Ray, Teh Wei Kheng, Toro Sabrina, Vasilevsky Nicole, Xu Chuan, Zhang Yun, Scheuermann Richard H, Mungall Chirstopher J, Diehl Alexander D, Osumi-Sutherland David

机构信息

Scientific Data Registration, Novo Nordisk A/S, Måløv, Denmark.

European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton, Saffron Walden, CB10 1SD, UK.

出版信息

ArXiv. 2025 Jun 17:arXiv:2506.10037v2.

PMID:
40735089
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12306828/
Abstract

Single-cell omics technologies have transformed our understanding of cellular diversity by enabling high-resolution profiling of individual cells. However, the unprecedented scale and heterogeneity of these datasets demand robust frameworks for data integration and annotation. The Cell Ontology (CL) has emerged as a pivotal resource for achieving FAIR (Findable, Accessible, Interoperable, and Reusable) data principles by providing standardized, species-agnostic terms for canonical cell types-forming a core component of a wide range of platforms and tools. In this paper, we describe the wide variety of uses of CL in these platforms and tools and detail ongoing work to improve and extend CL content including the addition of transcriptomically defined types, working closely with major atlasing efforts including the Human Cell Atlas and the Brain Initiative Cell Atlas Network to support their needs. We cover the challenges and future plans for harmonising classical and transcriptomic cell type definitions, integrating markers and using Large Language Models (LLMs) to improve content and efficiency of CL workflows.

摘要

单细胞组学技术通过对单个细胞进行高分辨率分析,改变了我们对细胞多样性的理解。然而,这些数据集前所未有的规模和异质性需要强大的数据整合和注释框架。细胞本体(CL)已成为实现FAIR(可查找、可访问、可互操作和可重用)数据原则的关键资源,它为标准细胞类型提供标准化的、与物种无关的术语,构成了广泛平台和工具的核心组成部分。在本文中,我们描述了CL在这些平台和工具中的各种用途,并详细介绍了正在进行的改进和扩展CL内容的工作,包括添加转录组定义的细胞类型,与包括人类细胞图谱和脑计划细胞图谱网络在内的主要图谱绘制工作密切合作以满足其需求。我们还探讨了协调经典和转录组细胞类型定义、整合标记以及使用大语言模型(LLMs)来提高CL工作流程的内容和效率所面临的挑战和未来计划。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bcad/12306828/e67be21bebe6/nihpp-2506.10037v2-f0007.jpg
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本文引用的文献

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Discovery of optimal cell type classification marker genes from single cell RNA sequencing data.从单细胞RNA测序数据中发现最佳细胞类型分类标记基因。
BMC Methods. 2024;1. doi: 10.1186/s44330-024-00015-2. Epub 2024 Nov 4.
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Construction, Deployment, and Usage of the Human Reference Atlas Knowledge Graph.人类参考图谱知识图谱的构建、部署与应用
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BioPortal: an open community resource for sharing, searching, and utilizing biomedical ontologies.生物门户:一个用于共享、搜索和利用生物医学本体的开放社区资源。
Nucleic Acids Res. 2025 Jul 7;53(W1):W84-W94. doi: 10.1093/nar/gkaf402.
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OLS4: a new Ontology Lookup Service for a growing interdisciplinary knowledge ecosystem.OLS4:面向不断发展的跨学科知识生态系统的新型本体查找服务。
Bioinformatics. 2025 May 6;41(5). doi: 10.1093/bioinformatics/btaf279.
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Digital evolution: Novo Nordisk's shift to ontology-based data management.数字进化:诺和诺德向基于本体的数据管理的转变。
J Biomed Semantics. 2025 Mar 22;16(1):6. doi: 10.1186/s13326-025-00327-4.
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Human BioMolecular Atlas Program (HuBMAP): 3D Human Reference Atlas construction and usage.人类生物分子图谱计划(HuBMAP):3D人类参考图谱的构建与应用。
Nat Methods. 2025 Apr;22(4):845-860. doi: 10.1038/s41592-024-02563-5. Epub 2025 Mar 13.
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A change language for ontologies and knowledge graphs.本体和知识图谱的语言变更。
Database (Oxford). 2025 Jan 22;2025. doi: 10.1093/database/baae133.
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CZ CELLxGENE Discover: a single-cell data platform for scalable exploration, analysis and modeling of aggregated data.CZ CELLxGENE发现平台:一个用于对聚合数据进行可扩展探索、分析和建模的单细胞数据平台。
Nucleic Acids Res. 2025 Jan 6;53(D1):D886-D900. doi: 10.1093/nar/gkae1142.
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Consensus prediction of cell type labels in single-cell data with popV.使用popV对单细胞数据中的细胞类型标签进行一致性预测。
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