On Improving the Phenotype Acquisition Process Using Semantic Web Technology

The work presented in this paper is framed within the context of the BigMed project, a project funded by the Norwegian Research Council. One of the objectives of BigMed is to enhance the phenotype acquisition process in newborns with a monogenetic disorder, one of the four patient groups studied in the project. The use of the Human Phenotype Ontology (HPO) [1] to tag phenotypes and systems like PhenoTips have substantially contributed to the overall phenotype acquisition workflow. PhenoTips [2] is a system for the acquisition of phenotypic information in patients with a genetic disease. PhenoTips also suggests, given a selected set of HPO terms, candidate diagnoses using OMIM (Online Mendelian Inheritance in Man) codes, and related genes for a subsequent genetic test. Although PhenoTips represents a fantastic effort, we believe it could be extended with suitable Semantic Web solutions. In this paper, we present the first steps to adopt ontology alignment techniques to contribute to the diagnostic process.