Using ontology visualization to facilitate access to knowledge about human disease genes

Abstract

Biomedical ontologies not only capture a wealth of biological knowledge but also provide a representational system to support the integration and retrieval of biological information that shed light on many aspects of disease. Various biomedical ontologies are used by model organism databases to annotate biological entities to the literature and they have become an essential part of high throughput experiments and bioinformatics research. Here we explore the power of ontology visualization to enhance the understanding of annotations by presenting annotations graphically thus showing their context within the broader biological knowledge the ontology provides. Further, by bringing together functional, anatomical and phenotypic annotations for genes implicated in disease, we hope to provide a synthesis that approaches a fuller description and representation of diseases.