Ontology guided data integration for computational prioritization of disease genes

Abstract

In this paper we present our progress on a framework for collection and presentation of biomedical information through ontology-based mediation. The framework is built on top of a methodology for computational prioritization of candidate disease genes, called Endeavour. Endeavour prioritizes genes based on their similarity with a set of training genes while using a wide variety of information sources. However, collecting information from different sources is a difficult process and can lead to non-flexible solutions. In this paper we describe an ontology-based mediation framework for efficient retrieval, integration, and visualization of the information sources Endeavour uses. The described framework allows to (1) integrate the information sources on a conceptual level, (2) provide transparency to the user, (3) eliminate ambiguity and (4) increase efficiency in information display. © Springer-Verlag Berlin Heidelberg 2006.