Human genome conceptual modeling: An ontological framework for the design and implementation of genomic Information Systems

The objective of the work presented in this paper is to design and develop an Information System that integrates genome information currently scattered in different repositories. The comprehension of biological and concretely genomic concepts is an extremely attractive research topic due to the needs of experts. The system has been developed following a conceptual-model and ontological description based methodology. This work provides a conceptual model to represent, in a formal way, genome knowledge and a ontological description with high-level detail to describe some aspects that conceptual modeling can not cover. To keep information regarding the changes to an evolving environment a versioning system is necessary. On the other hand when the conceptual model is established, it is implemented in a database. The database acts as a unified repository of integrated information that will allow biologists to perform efficient recovery tasks. Lastly, a loading module will be implemented, using an ETL (extraction, transformation and load) strategy, in order to integrate data from relevant variation repositories.