Bridging between genotype and phenotype is generally achieved through the integration of knowledge sources such as Entrez Gene (EG), Online Mendelian Inheritance in Man (OMIM) and the Gene Ontology (GO). Traditionally, such integration implies manual effort or the development of customized software. In this paper, we demonstrate how the Resource Description Framework (RDF) can be used to represent and integrate these resources and support complex queries over the unified resource. We illustrate the effectiveness of our approach by answering a real-world biomedical query linking a specific molecular function, glycosyltransferase, to the disorder congenital muscular dystrophy, which potentially forms a new hypothesis. Some challenges encountered along the way are discussed, namely issues with the identification of biomedical entities and the lack of a reference ontology of relationships.
Sahoo, S. S.,
& Sheth, A. P.
(2007). An Experiment in Integrating Large Biomedical Knowledge Resources with RDF: Application to Associating Genotype and Phenotype Information. .