Craniofacial abnormalities occur in over half of all congenital malformations. To understand the genetic basis for these disorders requires precise yet detailed phenotypic and genotypic data from multiple sources. Recognizing this problem the NIDCR in 2008 sponsored the creation of the FaceBase Consortium, whose purpose is to systemically acquire and integrate multiple forms of data in order to facilitate a systems level understanding of the causes and possible treatments for craniofacial abnormalities.
A basic component of any data integration effort is a controlled set of terms or keywords that can be associated with the data through a process called data annotation, so that diverse data can be related via common terms. If in addition, the terms are related to each other in an ontology, then integration can occur at the level of meaning rather than simply via keywords as in a Google search.
In this proposed competitive revision we will develop such an ontology, the “Ontology of Craniofacial Development and Malformation” (OCDM), based on extensions to our Foundational Model of Anatomy (FMA) ontology, which is widely accepted as the canonical reference ontology for normal human anatomy. Our specific aims are: 1) Develop and refine use cases based on the needs of FaceBase researchers; 2) Extend the FMA to accommodate normal human craniofacial development; 3) Design and build the OCDM based on the extended FMA, and augmented with malformation and animal model information; and 4) Evaluate the utility of the OCDM for data annotation and integration.
By basing the OCDM on normal human developmental anatomy we will ensure maximum clinical relevance for the myriad of data that are being acquired at multiple levels of granularity, ranging from genes to the whole organism, and from multiple species ranging from the fly to the human. The OCDM will therefore provide a fundamental semantic backbone for the FaceBase consortium as a whole, thereby greatly enhancing its efforts to facilitate a systems level understanding of the causes and potential treatments for craniofacial abnormalities.