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用于关联开放数据的人类参考图谱知识图谱的构建、部署与使用。

Construction, Deployment, and Usage of the Human Reference Atlas Knowledge Graph for Linked Open Data.

作者信息

Bueckle Andreas, Herr Bruce W, Hardi Josef, Quardokus Ellen M, Musen Mark A, Börner Katy

机构信息

Department of Intelligent Systems Engineering, Luddy School of Informatics, Computing, and Engineering, Indiana University, Bloomington, IN, USA.

Stanford Center for Biomedical Informatics Research, Stanford University, Stanford, CA, USA.

出版信息

bioRxiv. 2025 Feb 19:2024.12.22.630006. doi: 10.1101/2024.12.22.630006.

Abstract

The Human Reference Atlas (HRA) for the healthy, adult body is being developed by a team of international, interdisciplinary experts across 20+ consortia. It provides standard terminologies and data structures for describing specimens, biological structures, and spatial positions of experimental datasets and ontology-linked reference anatomical structures (AS), cell types (CT), and biomarkers (B). We introduce the HRA Knowledge Graph (KG) as central data resource for HRA v2.2, supporting cross-scale, biological queries to Resource Description Framework graphs using SPARQL. In February 2025, the HRA KG covered 71 organs with 5,800 AS, 2,268 CT, 2,531 B; it had 10,064,033 nodes, 171,250,177 edges, and a size of 125.84 GB. The HRA KG comprises 13 types of Digital Objects (DOs) using the Common Coordinate Framework Ontology to standardize core concepts and relationships across DOs. We (1) provide data and code for HRA KG construction; (2) detail HRA KG deployment by Linked Open Data principles; and (3) illustrate HRA KG usage via application programming interfaces, user interfaces, data products. A companion website is at https://cns-iu.github.io/hra-kg-supporting-information.

摘要

一个由20多个联盟的国际跨学科专家团队正在开发健康成人体的人类参考图谱(HRA)。它为描述标本、生物结构以及实验数据集和与本体相关的参考解剖结构(AS)、细胞类型(CT)和生物标志物(B)的空间位置提供了标准术语和数据结构。我们引入HRA知识图谱(KG)作为HRA v2.2的核心数据资源,支持使用SPARQL对资源描述框架图进行跨尺度生物查询。到2025年2月,HRA KG涵盖71个器官,有5800个AS、2268个CT、2531个B;它有10064033个节点、171250177条边,大小为125.84GB。HRA KG使用通用坐标框架本体包含13种数字对象(DO),以标准化跨DO的核心概念和关系。我们(1)提供HRA KG构建的数据和代码;(2)按照关联开放数据原则详细介绍HRA KG的部署;(3)通过应用程序编程接口、用户界面、数据产品说明HRA KG的用法。配套网站为https://cns-iu.github.io/hra-kg-supporting-information

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f167/11849466/6ef766a28cee/nihpp-2024.12.22.630006v2-f0001.jpg

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