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Abstract

The work presented in this paper is framed within the context of the BigMed project, aproject funded by the Norwegian Research Council. One of the objectives of BigMed isto 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 PhenotypeOntology (HPO) [1] to tag phenotypes and systems like PhenoTips have substantiallycontributed to the overall phenotype acquisition workflow. PhenoTips [2] is a systemfor the acquisition of phenotypic information in patients with a genetic disease. Phe-noTips also suggests, given a selected set of HPO terms, candidate diagnoses usingOMIM (Online Mendelian Inheritance in Man) codes, and related genes for a subse-quent genetic test. Although PhenoTips represents a fantastic effort, we believe it couldbe extended with suitable Semantic Web solutions. In this paper, we present the firststeps to adopt ontology alignment techniques to contribute to the diagnostic process.

Publication Type:	Article
Subjects:	Q Science > QA Mathematics > QA75 Electronic computers. Computer science Z Bibliography. Library Science. Information Resources > Z665 Library Science. Information Science
Departments:	School of Science & Technology > Computer Science

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