Demystifying Ontologies and Their Utility for Biomedicine

Elucidating disease and dysfunction requires understanding how genotypic variation relates to phenotypic outcomes. Researchers produce data that are collated to generate hypotheses and novel discoveries, which feed into the clinic, further driving basic research. It is a beautiful cycle, but not all data is created equal along the way, and this process can take years.

Data integration is a key challenge as phenotype data is largely unstructured and is encoded in a variety of formats. Structuring phenotype data using ontologies assists in its algorithmic use to shed new light on how biological systems function across time and scale. The use of cross-species anatomy and phenotype ontologies can be combined with genomic analysis to support disease diagnosis, prognosis, and treatment selection. In this webinar, we explore the basics of what constitutes a quality ontology; when and how to apply the use of ontologies for biomedicine; how to reuse and integrate with other efforts; and how to build ontologies fit for this purpose. We will discuss disease diagnostics and the emergent PTSD ontology for patient classification as exemplars.