DO-KB知识库:20年的旅程开发疾病开放科学生态系统
J Allen Baron1, Claudia Sanchez-Beato Johnson1, Michael A Schor1
1University of Maryland School of Medicine, Institute for Genome Sciences, Baltimore, MD, USA.
Nucleic acids research
|November 12, 2023
概括
人类疾病本体学 (DO) 已经发展成为疾病分类的重要资源. 新的DO知识库 (DO-KB) 提高了数据的可访问性和与链接开放数据的整合.
科学领域:
- 生物医学信息学 生物医学信息学
- 本体学 工程学 工程学
- 人类疾病研究研究研究
背景情况:
- 人类疾病本体学 (DO) 成立于2003年,作为人类疾病的命名和分类标准.
- 20多年来,DO已经成为一个至关重要的资源,整合了机械性疾病驱动因素,并扩展到超过11,300种疾病.
- 它目前通过超过37,000个词汇交叉映射 (v2023-08-08) 将疾病概念联系在一起.
研究的目的:
- 介绍新推出的DO知识库 (DO-KB).
- 提高疾病数据的可查,可访问性,互操作性和可重复使用性 (FAIR).
- 扩大DO对疾病组的代表性,并将语义知识与外部链接的开放数据资源整合起来.
主要方法:
- 开发一种新的SPARQL服务,用于查询疾病数据.
- 实施新的分层搜索接口,以改善数据探索.
- 将DO的语义知识骨干与来自开放链接数据资源的疾病相关数据集成.
主要成果:
- DO-KB提供了一个集成的数据系统,建立在DO的语义骨干上.
- 通过新的服务和接口,提高数据可访问性和互操作性.
- 扩大疾病代表性和改善与外部数据源的连接性.
结论:
- DO-KB显著提升了人类疾病本体学的实用性.
- 它改善了疾病数据的FAIR原则,促进了更好的研究和数据集成.
- 目前的努力集中在评估全球影响和提高数据质量上.
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