Abstract

The Linked Data initiative offers a straight method to publish structured data in the World Wide Web and link it to other data, resulting in a world wide network of semantically codified data known as the Linked Open Data cloud. The size of the Linked Open Data cloud, i.e. the amount of data published using Linked Data principles, is growing exponentially, including life sciences data. However, key information for biological research is still missing in the Linked Open Data cloud. For example, the relation between orthologs genes and genetic diseases is absent, even though such information can be used for hypothesis generation regarding human diseases. The OGOLOD system, an extension of the OGO Knowledge Base, publishes orthologs/diseases information using Linked Data. This gives the scientists the ability to query the structured information in connection with other Linked Data and to discover new information related to orthologs and human diseases in the cloud.

Keywords: Genetic disease, linked (open) data, orthologs, RDF, semantic web SPARQL and OWL, OGOLOD system, OBO Foundry, Knowledge Base (KB).