Relationship auditing of the FMA ontology

The Foundational Model of Anatomy (FMA) ontology is a domain reference ontology based on a disciplined modeling approach. Due to its large size, semantic complexity and manual data entry process, errors and inconsistencies are unavoidable and might remain within the FMA structure without detection. In this paper, we present computable methods to highlight candidate concepts for various relation- ship assignment errors. The process starts with locating structures formed by transitive structural relationships (part_of, tributary_of, branch_of) and examine their assignments in the context of the IS-A hierarchy. The algorithms were designed to detect five major categories of possible incorrect relationship assignments: circular, mutually exclusive, redundant, inconsistent, and missed entries. A domain expert reviewed samples of these presumptive errors to confirm the findings. Seven thousand and fifty-two presumptive errors were detected, the largest proportion related to part_of relationship assignments. The results highlight the fact that errors are unavoidable in complex ontologies and that well designed algorithms can help domain experts to focus on concepts with high likelihood of errors and maximize their effort to ensure consistency and reliability. In the future similar methods might be integrated with data entry processes to offer real-time error detection

Automated comparative auditing of NCIT genomic roles using NCBI

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\u27s Gene hierarchy will contain role errors. A comparative methodology to audit the Gene hierarchy with the use of the National Center for Biotechnology Information\u27s (NCBI\u27s) 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. © 2008 Elsevier Inc. All rights reserved

Applications of big knowledge summarization

Advanced technologies have resulted in the generation of large amounts of data ( Big Data ). The Big Knowledge derived from Big Data could be beyond humans\u27 ability of comprehension, which will limit the effective and innovative use of Big Knowledge repository. Biomedical ontologies, which play important roles in biomedical information systems, constitute one kind of Big Knowledge repository. Biomedical ontologies typically consist of domain knowledge assertions expressed by the semantic connections between tens of thousands of concepts. Without some high-level visual representation of Big Knowledge in biomedical ontologies, humans cannot grasp the big picture of those ontologies. Such Big Knowledge orientation is required for the proper maintenance of ontologies and their effective use. This dissertation is addressing the Big Knowledge challenge - How to enable humans to use Big Knowledge correctly and effectively (referred to as the Big Knowledge to Use (BK2U) problem) - with a focus on biomedical ontologies. In previous work, Abstraction Networks (AbNs) have been demonstrated successful for the summarization, visualization and quality assurance (QA) of biomedical ontologies. Based on the previous research, this dissertation introduces new AbNs of various granularities for Big Knowledge summarization and extends the applications of AbNs. This dissertation consists of three main parts. The first part introduces two advanced AbNs. One is the weighted aggregate partial-area taxonomy with a parameter to flexibly control the summarization granularity. The second is the Ingredient Abstraction Network (IAbN) for the National Drug File - Reference Terminology (NDF-RT) Chemical Ingredients hierarchy, for which the previously developed AbNs for hierarchies with outgoing relationships, are not applicable. Since NDF-RT\u27s Chemical Ingredients hierarchy has no outgoing relationships. The second part describes applications of the two advanced AbNs. A study utilizing the weighted aggregate partial-area taxonomy for the identification of major topics in SNOMED CT\u27s Specimen hierarchy is reported. A multi-layer interactive visualization system of required granularity for ontology comprehension, based on the weighted aggregate partial-area taxonomy, is demonstrated to comprehend the Neoplasm subhierarchy of National Cancer Institute thesaurus (NCIt). The IAbN is applied for drug-drug interaction (DDI) discovery. The third part reports eight family-based QA studies on NCIt\u27s Neoplasm, Gene, and Biological Process hierarchies, SNOMED CT\u27s Infectious disease hierarchy, the Chemical Entities of Biological Interest ontology, and the Chemical Ingredients hierarchy in NDF-RT. There is no one-size-fits-all QA method and it is impossible to find a QA method for each individual ontology. Hence, family-based QA is an effective way, i.e., one QA technique could be applicable to a whole family of structurally similar ontologies. The results of these studies demonstrate that complex concepts and uncommonly modeled concepts are more likely to have errors. Furthermore, the three studies on overlapping concepts in partial-area taxonomies reported in this dissertation combined with previous three studies prove the success of overlapping concepts as a QA methodology for a whole family of 76 similar ontologies in BioPortal