Search for: All records

Abstract Gene Ontology (GO) is widely used in the biological domain. It is the most comprehensive ontology providing formal representation of gene functions (GO concepts) and relations between them. However, unintentional quality defects (e.g. missing or erroneous relations) in GO may exist due to the large size of GO concepts and complexity of GO structures. Such quality defects would impact the results of GO-based analyses and applications. In this work, we introduce a novel evidence-based lexical pattern approach for quality assurance of GO relations. We leverage two layers of evidence to suggest potentially missing relations in GO as follows. We first utilize related concept pairs (i.e. existing relations) in GO to extract relationship-specific lexical patterns, which serve as the first layer evidence to automatically suggest potentially missing relations between unrelated concept pairs. For each suggested missing relation, we further identify two other existing relations as the second layer of evidence that resemble the difference between the missing relation and the existing relation based on which the missing relation is suggested. Applied to the 15 December 2021 release of GO, this approach suggested a total of 866 potentially missing relations. Local domain experts evaluated the entire set of potentially missing relations, and identified 821 as missing relations and 45 indicate erroneous existing relations. We submitted these findings to the GO consortium for further validation and received encouraging feedback. These indicate that our evidence-based approach can be utilized to uncover missing relations and erroneous existing relations in GO. 

Abstract Objective The Unified Medical Language System (UMLS) integrates various source terminologies to support interoperability between biomedical information systems. In this article, we introduce a novel transformation-based auditing method that leverages the UMLS knowledge to systematically identify missing hierarchical IS-A relations in the source terminologies. Materials and Methods Given a concept name in the UMLS, we first identify its base and secondary noun chunks. For each identified noun chunk, we generate replacement candidates that are more general than the noun chunk. Then, we replace the noun chunks with their replacement candidates to generate new potential concept names that may serve as supertypes of the original concept. If a newly generated name is an existing concept name in the same source terminology with the original concept, then a potentially missing IS-A relation between the original and the new concept is identified. Results Applying our transformation-based method to English-language concept names in the UMLS (2019AB release), a total of 39 359 potentially missing IS-A relations were detected in 13 source terminologies. Domain experts evaluated a random sample of 200 potentially missing IS-A relations identified in the SNOMED CT (U.S. edition) and 100 in Gene Ontology. A total of 173 of 200 and 63 of 100 potentially missing IS-A relations were confirmed by domain experts, indicating that our method achieved a precision of 86.5% and 63% for the SNOMED CT and Gene Ontology, respectively. Conclusions Our results showed that our transformation-based method is effective in identifying missing IS-A relations in the UMLS source terminologies.