Ontology mapping: the state of the art

Ontology mapping is seen as a solution provider in today's landscape of ontology research. As the number of ontologies that are made publicly available and accessible on the Web increases steadily, so does the need for applications to use them. A single ontology is no longer enough to support the tasks envisaged by a distributed environment like the Semantic Web. Multiple ontologies need to be accessed from several applications. Mapping could provide a common layer from which several ontologies could be accessed and hence could exchange information in semantically sound manners. Developing such mapping has beeb the focus of a variety of works originating from diverse communities over a number of years. In this article we comprehensively review and present these works. We also provide insights on the pragmatics of ontology mapping and elaborate on a theoretical approach for defining ontology mapping

COMPUTATIONAL TOOLS FOR THE DYNAMIC CATEGORIZATION AND AUGMENTED UTILIZATION OF THE GENE ONTOLOGY

Ontologies provide an organization of language, in the form of a network or graph, which is amenable to computational analysis while remaining human-readable. Although they are used in a variety of disciplines, ontologies in the biomedical field, such as Gene Ontology, are of interest for their role in organizing terminology used to describe—among other concepts—the functions, locations, and processes of genes and gene-products. Due to the consistency and level of automation that ontologies provide for such annotations, methods for finding enriched biological terminology from a set of differentially identified genes in a tissue or cell sample have been developed to aid in the elucidation of disease pathology and unknown biochemical pathways. However, despite their immense utility, biomedical ontologies have significant limitations and caveats. One major issue is that gene annotation enrichment analyses often result in many redundant, individually enriched ontological terms that are highly specific and weakly justified by statistical significance. These large sets of weakly enriched terms are difficult to interpret without manually sorting into appropriate functional or descriptive categories. Also, relationships that organize the terminology within these ontologies do not contain descriptions of semantic scoping or scaling among terms. Therefore, there exists some ambiguity, which complicates the automation of categorizing terms to improve interpretability. We emphasize that existing methods enable the danger of producing incorrect mappings to categories as a result of these ambiguities, unless simplified and incomplete versions of these ontologies are used which omit problematic relations. Such ambiguities could have a significant impact on term categorization, as we have calculated upper boundary estimates of potential false categorizations as high as 121,579 for the misinterpretation of a single scoping relation, has_part, which accounts for approximately 18% of the total possible mappings between terms in the Gene Ontology. However, the omission of problematic relationships results in a significant loss of retrievable information. In the Gene Ontology, this accounts for a 6% reduction for the omission of a single relation. However, this percentage should increase drastically when considering all relations in an ontology. To address these issues, we have developed methods which categorize individual ontology terms into broad, biologically-related concepts to improve the interpretability and statistical significance of gene-annotation enrichment studies, meanwhile addressing the lack of semantic scoping and scaling descriptions among ontological relationships so that annotation enrichment analyses can be performed across a more complete representation of the ontological graph. We show that, when compared to similar term categorization methods, our method produces categorizations that match hand-curated ones with similar or better accuracy, while not requiring the user to compile lists of individual ontology term IDs. Furthermore, our handling of problematic relations produces a more complete representation of ontological information from a scoping perspective, and we demonstrate instances where medically-relevant terms--and by extension putative gene targets--are identified in our annotation enrichment results that would be otherwise missed when using traditional methods. Additionally, we observed a marginal, yet consistent improvement of statistical power in enrichment results when our methods were used, compared to traditional enrichment analyses that utilize ontological ancestors. Finally, using scalable and reproducible data workflow pipelines, we have applied our methods to several genomic, transcriptomic, and proteomic collaborative projects

Continuous Improvement Through Knowledge-Guided Analysis in Experience Feedback

Continuous improvement in industrial processes is increasingly a key element of competitiveness for industrial systems. The management of experience feedback in this framework is designed to build, analyze and facilitate the knowledge sharing among problem solving practitioners of an organization in order to improve processes and products achievement. During Problem Solving Processes, the intellectual investment of experts is often considerable and the opportunities for expert knowledge exploitation are numerous: decision making, problem solving under uncertainty, and expert configuration. In this paper, our contribution relates to the structuring of a cognitive experience feedback framework, which allows a flexible exploitation of expert knowledge during Problem Solving Processes and a reuse such collected experience. To that purpose, the proposed approach uses the general principles of root cause analysis for identifying the root causes of problems or events, the conceptual graphs formalism for the semantic conceptualization of the domain vocabulary and the Transferable Belief Model for the fusion of information from different sources. The underlying formal reasoning mechanisms (logic-based semantics) in conceptual graphs enable intelligent information retrieval for the effective exploitation of lessons learned from past projects. An example will illustrate the application of the proposed approach of experience feedback processes formalization in the transport industry sector

FEDRR: Fast, Exhaustive Detection of Redundant Hierarchical Relations for Quality Improvement of Large Biomedical Ontologies

Background: Redundant hierarchical relations refer to such patterns as two paths from one concept to another, one with length one (direct) and the other with length greater than one (indirect). Each redundant relation represents a possibly unintended defect that needs to be corrected in the ontology quality assurance process. Detecting and eliminating redundant relations would help improve the results of all methods relying on the relevant ontological systems as knowledge source, such as the computation of semantic distance between concepts and for ontology matching and alignment. Results: This paper introduces a novel and scalable approach, called FEDRR – Fast, Exhaustive Detection of Redundant Relations – for quality assurance work during ontological evolution. FEDRR combines the algorithm ideas of Dynamic Programming with Topological Sort, for exhaustive mining of all redundant hierarchical relations in ontological hierarchies, in O(c·|V|+|E|) time, where |V| is the number of concepts, |E| is the number of the relations, and c is a constant in practice. Using FEDRR, we performed exhaustive search of all redundant is-a relations in two of the largest ontological systems in biomedicine: SNOMED CT and Gene Ontology (GO). 372 and 1609 redundant is-a relations were found in the 2015-09-01 version of SNOMED CT and 2015-05-01 version of GO, respectively. We have also performed FEDRR on over 190 source vocabularies in the UMLS - a large integrated repository of biomedical ontologies, and identified six sources containing redundant is-a relations. Randomly generated ontologies have also been used to further validate the efficiency of FEDRR. Conclusions: FEDRR provides a generally applicable, effective tool for systematic detecting redundant relations in large ontological systems for quality improvement

Extending import detection algorithms for concept import from two to three biomedical terminologies

Background: While enrichment of terminologies can be achieved in different ways, filling gaps in the IS-A hierarchy backbone of a terminology appears especially promising. To avoid difficult manual inspection, we started a research program in 2014, investigating terminology densities, where the comparison of terminologies leads to the algorithmic discovery of potentially missing concepts in a target terminology. While candidate concepts have to be approved for import by an expert, the human effort is greatly reduced by algorithmic generation of candidates. In previous studies, a single source terminology was used with one target terminology. Methods: In this paper, we are extending the algorithmic detection of “candidate concepts for import” from one source terminology to two source terminologies used in tandem. We show that the combination of two source terminologies relative to one target terminology leads to the discovery of candidate concepts for import that could not be found with the same “reliability” when comparing one source terminology alone to the target terminology. We investigate which triples of UMLS terminologies can be gainfully used for the described purpose and how many candidate concepts can be found for each individual triple of terminologies. Results: The analysis revealed a specific configuration of concepts, overlapping two source and one target terminology, for which we coined the name “fire ladder” pattern. The three terminologies in this pattern are tied together by a kind of “transitivity.” We provide a quantitative analysis of the discovered fire ladder patterns and we report on the inter-rater agreement concerning the decision of importing candidate concepts from source terminologies into the target terminology. We algorithmically identified 55 instances of the fire ladder pattern and two domain experts agreed on import for 39 instances. In total, 48 concepts were approved by at least one expert. In addition, 105 import candidate concepts from a single source terminology into the target terminology were also detected, as a “beneficial side-effect” of this method, increasing the cardinality of the result. Conclusion: We showed that pairs of biomedical source terminologies can be transitively chained to suggest possible imports of concepts into a target terminology

A framework for semantic checking of information systems

Dissertação para obtenção do Grau de Mestre em Engenharia Electrotécnica e de ComputadoresIn this day and age, enterprises often find that their business benefits greatly if they collaborate with others in order to be more competitive and productive. However these collaborations often come with some costs since the worldwide diversity of communities has led to the development of various knowledge representation elements, namely ontologies that, in most cases, are not semantically equivalent. Consequently, even though some enterprises may operate in the same domain, they can have different representations of that same knowledge. However, even after solving this issue and establishing a semantic alignment with other systems, they do not remain unchanged. Subsequently, a regular check of its semantic alignment is needed. To aid in the resolution of this semantic interoperability problem, the author proposes a framework that intends to provide generic solutions and a mean to validate the semantic consistency of ontologies in various scenarios, thus maintaining the interoperability state between the enrolled systems