Linking Genome Annotation Projects with Genetic Disorders using Ontologies

Genome sequencing projects generate vast amounts of data of a wide variety of types and complexities, and at a growing pace. Traditionally, the annotation of such sequences was difficult to share with other researchers. Despite the fact that this has improved with the development and application of biological ontologies, such annotation efforts remain isolated since the amount of information that can be used from other annotation projects is limited. In addition to this, they do not benefit from the translational information available for the genomic sequences. In this paper, we describe a system that supports genome annotation processes by providing useful information about orthologous genes and the genetic disorders which can be associated with a gene identified in a sequence. The seamless integration of such data will be facilitated by an ontological infrastructure which, following best practices in ontology engineering, will reuse existing biological ontologies like Sequence Ontology or Ontological Gene Orthology.