Integrating Human Genome Variation Data: An Information System Approach

The goal of this work is to design and develop an Information System that integrates human genome variation data currently scattered in different repositories. The continuous and increasing interest generated around the variations knowledge, makes the study of this research topic from an Information System point of view extremely attractive. The system has been developed following a conceptual-model based methodology. The conceptual model represents, in a formal way, genome variation knowledge. The definition and categorization of variations is unified using this conceptualization. Once this conceptual model is established, it is implemented in a database (Human Genome Data Base, HGDB). The database acts as a unified variation repository of integrated information that will allow biologists to perform efficient recovery tasks. Lastly, a loading module has been implemented, using an extraction-transformation-load (ETL) strategy, in order to integrate data from three relevant variation repositories: HapMap, Ensembl and Cosmic. An exploitation module for final users is also provided.