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整合人类疾病、表型和放射诊断的本体论。

Integrating ontologies of human diseases, phenotypes, and radiological diagnosis.

机构信息

Pacific Northwest University of Health Sciences, Yakima, WA, USA.

Department of Radiology, MedStar Georgetown University Hospital, Washington, DC, USA.

出版信息

J Am Med Inform Assoc. 2019 Feb 1;26(2):149-154. doi: 10.1093/jamia/ocy161.

DOI:10.1093/jamia/ocy161
PMID:30624645
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7647183/
Abstract

Mappings between ontologies enable reuse and interoperability of biomedical knowledge. The Radiology Gamuts Ontology (RGO)-an ontology of 16 918 diseases, interventions, and imaging observations-provides a resource for differential diagnosis and automated textual report understanding in radiology. An automated process with subsequent manual review was used to identify exact and partial matches of RGO entities to the Disease Ontology (DO) and the Human Phenotype Ontology (HPO). Exact mappings identified equivalent concepts; partial mappings identified subclass and superclass relationships. A total of 7913 distinct RGO entities (46.8%) were mapped to one or both of the two target ontologies. Integration of RGO's causal knowledge resulted in 9605 axioms that expressed direct causal relationships between DO diseases and HPO phenotypic abnormalities, and allowed one to formulate queries about causal relations using the abstraction properties in those two ontologies. The mappings can be used to support automated diagnostic reasoning, data mining, and knowledge discovery.

摘要

本体之间的映射支持生物医学知识的重用和互操作性。Radiology Gamuts Ontology(RGO)是一个包含 16918 种疾病、干预措施和影像学观察结果的本体,为放射学中的鉴别诊断和自动化文本报告理解提供了资源。我们使用自动过程和后续的手动审查来识别 RGO 实体与疾病本体(DO)和人类表型本体(HPO)之间的精确和部分匹配。精确映射识别等效概念;部分映射识别子类和超类关系。共有 7913 个不同的 RGO 实体(46.8%)被映射到两个目标本体中的一个或两个。RGO 的因果知识的整合产生了 9605 个公理,这些公理表达了 DO 疾病和 HPO 表型异常之间的直接因果关系,并允许使用这两个本体中的抽象属性来制定关于因果关系的查询。这些映射可用于支持自动化诊断推理、数据挖掘和知识发现。

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本文引用的文献

1
Biomedical ontology alignment: an approach based on representation learning.生物医学本体对齐:一种基于表征学习的方法。
J Biomed Semantics. 2018 Aug 15;9(1):21. doi: 10.1186/s13326-018-0187-8.
2
Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes.电子健康记录的深度表型分析有助于通过临床外显子组进行遗传诊断。
Am J Hum Genet. 2018 Jul 5;103(1):58-73. doi: 10.1016/j.ajhg.2018.05.010. Epub 2018 Jun 28.
3
Disease Ontology: improving and unifying disease annotations across species.疾病本体论:改善和统一跨物种的疾病注释。
Dis Model Mech. 2018 Mar 12;11(3):dmm032839. doi: 10.1242/dmm.032839.
4
Harmonising phenomics information for a better interoperability in the rare disease field.协调表型组学信息以提高罕见病领域的互操作性。
Eur J Med Genet. 2018 Nov;61(11):706-714. doi: 10.1016/j.ejmg.2018.01.013. Epub 2018 Feb 7.
5
Interoperability of Disease Concepts in Clinical and Research Ontologies: Contrasting Coverage and Structure in the Disease Ontology and SNOMED CT.临床与研究本体中疾病概念的互操作性:疾病本体与医学系统命名法临床术语(SNOMED CT)的覆盖范围与结构对比
Stud Health Technol Inform. 2017;245:925-929.
6
Experiences from the anatomy track in the ontology alignment evaluation initiative.本体对齐评估倡议中解剖学领域的经验。
J Biomed Semantics. 2017 Dec 4;8(1):56. doi: 10.1186/s13326-017-0166-5.
7
Matching disease and phenotype ontologies in the ontology alignment evaluation initiative.在本体对齐评估计划中匹配疾病和表型本体。
J Biomed Semantics. 2017 Dec 2;8(1):55. doi: 10.1186/s13326-017-0162-9.
8
The Human Phenotype Ontology in 2017.2017年的人类表型本体论。
Nucleic Acids Res. 2017 Jan 4;45(D1):D865-D876. doi: 10.1093/nar/gkw1039. Epub 2016 Nov 28.
9
Integrating Bio-ontologies and Controlled Clinical Terminologies: From Base Pairs to Bedside Phenotypes.整合生物本体与受控临床术语:从碱基对到床边表型
Methods Mol Biol. 2017;1446:275-287. doi: 10.1007/978-1-4939-3743-1_20.
10
Transitive closure of subsumption and causal relations in a large ontology of radiological diagnosis.大型放射诊断本体中包含关系和因果关系的传递闭包
J Biomed Inform. 2016 Jun;61:27-33. doi: 10.1016/j.jbi.2016.03.015. Epub 2016 Mar 19.