Detecting missing IS-A relations in the NCI Thesaurus using an enhanced hybrid approach

Author:

Zheng Fengbo,Abeysinghe Rashmie,Sioutos Nicholas,Whiteman Lori,Remennik Lyubov,Cui LicongORCID

Abstract

Abstract Background The National Cancer Institute (NCI) Thesaurus provides reference terminology for NCI and other systems. Previously, we proposed a hybrid prototype utilizing lexical features and role definitions of concepts in non-lattice subgraphs to identify missing IS-A relations in the NCI Thesaurus. However, no domain expert evaluation was provided in our previous work. In this paper, we further enhance the hybrid approach by leveraging a novel lexical feature—roots of noun chunks within concept names. Formal evaluation of our enhanced approach is also performed. Method We first compute all the non-lattice subgraphs in the NCI Thesaurus. We model each concept using its role definitions, words and roots of noun chunks within its concept name and its ancestor’s names. Then we perform subsumption testing for candidate concept pairs in the non-lattice subgraphs to automatically detect potentially missing IS-A relations. Domain experts evaluated the validity of these relations. Results We applied our approach to 19.08d version of the NCI Thesaurus. A total of 55 potentially missing IS-A relations were identified by our approach and reviewed by domain experts. 29 out of 55 were confirmed as valid by domain experts and have been incorporated in the newer versions of the NCI Thesaurus. 7 out of 55 further revealed incorrect existing IS-A relations in the NCI Thesaurus. Conclusions The results showed that our hybrid approach by leveraging lexical features and role definitions is effective in identifying potentially missing IS-A relations in the NCI Thesaurus.

Funder

National Cancer Institute

National Science Foundation

U.S. National Library of Medicine

Publisher

Springer Science and Business Media LLC

Subject

Health Informatics,Health Policy,Computer Science Applications

Reference28 articles.

1. NCI Thesaurus. https://ncit.nci.nih.gov/ncitbrowser/. Accessed 15 Feb 2020.

2. Hartel FW, de Coronado S, Dionne R, Fragoso G, Golbeck J. Modeling a description logic vocabulary for cancer research. J Biomed Inform. 2005;38(2):114–29.

3. De Coronado S, Haber MW, Sioutos N, Tuttle MS, Wright LW, et al. NCI Thesaurus: using science-based terminology to integrate cancer research results. In: Medinfo; 2004. p. 33–7.

4. Sioutos N, de Coronado S, Haber MW, Hartel FW, Shaiu WL, Wright LW. NCI Thesaurus: a semantic model integrating cancer-related clinical and molecular information. J Biomed Inform. 2007;40(1):30–43.

5. Fragoso G, de Coronado S, Haber M, Hartel F, Wright L. Overview and utilization of the NCI thesaurus. Int J Genom. 2004;5(8):648–54.

Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Leveraging logical definitions and lexical features to detect missing IS-A relations in biomedical terminologies;Journal of Biomedical Semantics;2024-05-01

2. Identifying Missing IS-A Relations in Orphanet Rare Disease Ontology;2022 IEEE International Conference on Bioinformatics and Biomedicine (BIBM);2022-12-06

3. Quality assurance and enrichment of biological and biomedical ontologies and terminologies;BMC Medical Informatics and Decision Making;2020-12

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3