Semantic refinement and error correction in large terminological knowledge bases
Data & Knowledge Engineering
An introduction to description logics
The description logic handbook
A reference ontology for biomedical informatics: the foundational model of anatomy
Journal of Biomedical Informatics - Special issue: Unified medical language system
Mapping the Gene Ontology into the Unified Medical Language System: Research Papers
Comparative and Functional Genomics
Modeling a description logic vocabulary for cancer research
Journal of Biomedical Informatics
NCI Thesaurus: A semantic model integrating cancer-related clinical and molecular information
Journal of Biomedical Informatics
Debugging Incoherent Terminologies
Journal of Automated Reasoning
Oncology ontology in the NCI thesaurus
AIME'05 Proceedings of the 10th conference on Artificial Intelligence in Medicine
A review of auditing methods applied to the content of controlled biomedical terminologies
Journal of Biomedical Informatics
Auditing associative relations across two knowledge sources
Journal of Biomedical Informatics
The NCI Thesaurus quality assurance life cycle
Journal of Biomedical Informatics
Relationship auditing of the FMA ontology
Journal of Biomedical Informatics
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Biomedical research has identified many human genes and various knowledge about them. The National Cancer Institute Thesaurus (NCIT) represents such knowledge as concepts and roles (relationships). Due to the rapid advances in this field, it is to be expected that the NCIT's Gene hierarchy will contain role errors. A comparative methodology to audit the Gene hierarchy with the use of the National Center for Biotechnology Information's (NCBI's) Entrez Gene database is presented. The two knowledge sources are accessed via a pair of Web crawlers to ensure up-to-date data. Our algorithms then compare the knowledge gathered from each, identify discrepancies that represent probable errors, and suggest corrective actions. The primary focus is on two kinds of gene-roles: (1) the chromosomal locations of genes, and (2) the biological processes in which genes play a role. Regarding chromosomal locations, the discrepancies revealed are striking and systematic, suggesting a structurally common origin. In regard to the biological processes, difficulties arise because genes frequently play roles in multiple processes, and processes may have many designations (such as synonymous terms). Our algorithms make use of the roles defined in the NCIT Biological Process hierarchy to uncover many probable gene-role errors in the NCIT. These results show that automated comparative auditing is a promising technique that can identify a large number of probable errors and corrections for them in a terminological genomic knowledge repository, thus facilitating its overall maintenance.