Translational Systems Genomics: Ontology and Imaging

In developing an integrated framework for translational bioinformatics, we consider bioimaging in the NIH Roadmap that exploits high-resolution genomic imaging for clinical applications to the diagnosis and treatment of genetic disorders/diseases. On one hand, we develop new image processing techniques, while on the other, we use the fusion of several well known ontological standards - Gene Ontology (GO), Clinical Bioinformatics Ontology (CBO), Foundational Model of Anatomy (FMA) and Microarry Gene Expression Data Ontology (MGED) in this framework. We have discovered that the heterogeneity of the imaging data can be resolved at the different ontological levels of this framework. Moreover, structural genomic information can be readily integrated into the usual textual clinical information bases.