Archiving and Sharing Skeletal Phenotyping Data - Abstract Our objective is to build a data repository focused on collecting and sharing bone phenotyping data performed on rodent animal models. Over the last ten years, our group has been actively involved in the bone phenotyping of over 200 mutant mouse lines. Working through the organization, storage, and viewing of datasets generated from this project made us recognize the extreme value that a skeletal repository would have for the entire bone community. We now propose to dramatically expand this effort and build a computational infrastructure, global in-scale, to collect and share bone phenotyping data generated by national and international researchers across the field. While significant limitations exist in the skeletal phenotyping of human patients, rodents remain the animal model of choice to study skeletal biology and model human skeletal diseases, where extensive phenotyping is routinely performed. Because the experimental animals are genetically homogeneous, the data captured is quantitative and, when coupled with experimental metadata, provides valuable insight into the mechanistic regulation of bone tissue. The magnitude of experimental questions being tested in rodent animal models to determine a skeletal phenotype is highly relevant to human disease, making for a rich data source that that if properly archived and shared can be exploited to understand mechanisms of skeletal regulation for rodents and humans. Unfortunately, existing rodent databases that collect genotype-phenotype data are extremely broad in scope and are not built to ingest bone phenotyping data. Taken together, this project addresses an unmet need in the skeletal field and will provide a highly valued resource that investigators can computationally mine to develop superior therapeutic approaches to treat skeletal disease. Here we have assembled a talented multidisciplinary team of bone biologists and computer scientists reinforced by the resources provided by UConn’s High Performance Computing Facility and Digital Experience Group to build a sustainable skeletal phenotyping repository. Our resource development plan has three major goals: 1) Develop a data ingestion method rich in the acquisition of metadata along with raw experimental data. 2) Develop a database system that incorporates the use of identifiers and ontologies to maximize data access and interoperability with outside databases. 3) Develop a web portal that maximizes FAIR (Findability, Accessibility, Interoperability, and Reuse) principles and becomes the go-to resource for investigators to enhance their research. A vital component of this resource plan also involves the use of scientific emissaries based in North America, Europe, and Asia that will engage with members of the bone community and be responsive to their needs.
