Ontology Driven Modeling for the Knowledge of Genetic Susceptibility to Disease

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For the machine helped exploring the relationships between genetic factors andcomplex diseases, a well-structured conceptual framework of the backgroundknowledge is needed. However, because of the complexity of determining a geneticsusceptibility factor, there is no formalization for the knowledge of geneticsusceptibility to disease, which makes the interoperability between systems impossible.Thus, the ontology modeling language OWL was used for formalization in this paper.After introducing the Semantic Web and OWL language propagated by W3C, weapplied text mining technology combined with competency questions to specify theclasses of the ontology. Then, an N-ary pattern was adopted to describe therelationships among these defined classes. Based on the former work of OGSF-DM(Ontology of Genetic Susceptibility Factors to Diabetes Mellitus), we formalized thedefinition of "Genetic Susceptibility", "Genetic Susceptibility Factor" and other classesby using OWL-DL modeling language; and a reasoner automatically performed theclassification of the class "Genetic Susceptibility Factor". Conclusion: The ontologydriven modeling is used for formalization the knowledge of genetic susceptibility tocomplex diseases. More importantly, when a class has been completely formalized in anontology, the OWL reasoning can automatically compute the classification of the class,in our case, the class of "Genetic Susceptibility Factors". With more types of geneticsusceptibility factors obtained from the laboratory research, our ontologies alwaysneeds to be refined, and many new classes must be taken into account to harmonizewith the ontologies. Using the ontologies to develop the semantic web needs to beapplied in the future.
神戸大学の論文

Ontology Driven Modeling for the Knowledge of Genetic Susceptibility to Disease

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