Web-based Data Registry
Researchers interested in looking across several rare disease repositories.
Designed to use the widely adopted i2b2-TranSMART platform for aggregating, securing, and storing patient level data, this registry has been explicitly configured for querying by researchers not proficient in the computer coding skills typically required to access multiple, related data sources originally developed on different platforms. Functionality confirmed by reproducing published findings.
Widely presented at national and NIH meetings
Publications in process.
Registered Users: 627
This is a web-based resource that aggregates, secures, and stores deidentified patient information from 10 different registries for rare diseases (5,277 patients with 178 different rare diseases) all in one place. This platform allows for the wider dissemination of data collected by individual rare disease registries as well as the increased accessibility of data for researchers conducting intra-registry and cross-registry queries in the genesis of hypotheses for potential study. It uses the BD2K PIC-SURE RESTful API described elsewhere, international ontologies for semantic interoperability, mappings to UMLS Concept Unique Identifiers, and mappings to 55 different GRDR Common Data Elements.
Relationship to the Commons
A perfect example of the Commons vision of organizing and provisioning complex data sets for the scientific community, especially as these datasets were originally commissioned by the NIH but were largely previously inaccessible due to lack of interoperability.