Engenharia ontológica aplicada para o projeto e especificação da ontocancro

Abstract

The analysis of information generated by studies in the field of bioinformatics and molecular biology helps researchers to understand complex cellular processes and genetic interactions in the stages of pathologies that affect humans. The large volume of data generated by these surveys requires the use of resources that allow the integration, processing and sharing of the knowledge produced. Among these tools there are ontologies, which allow to note phenotypic and genetic characteristics through the definition of concepts and semantic relationships between them. Ontocancro is inserted in this context and its main objective is to assist in the research of gene expression of biological networks of genes involved in cancer. The ontology is in the third version and during its development has undergone several changes made by different researchers. To specify each new version, each researcher selected a methodology that met their needs at that time. The non-use of the same methodology to specify and evolve the ontology has cast doubt on the quality and completeness of formalized knowledge, as there are no archives demonstrating what was built and no documentation indicating how the structure evolved over the time. Thus, the present study developed the design and specification of Ontocancro using a unique ontology engineering methodology to ensure knowledge sharing and interoperability between domain versions and features, as well as ontology compatibility with the current state of the project. The methodology used for the development of the proposed project was the NeOn and the reused ontological resource for the specification of the concepts was the BioPax ontology, according to the reuse guidelines. In addition to documenting the specification stages of Ontocancro and the insertion of the concept of gene expression, mapping the product encoded by each gene inserted in the study, an updated file was created with the implementation of ontology in OWL.