ClinGen is developing an Allele Registry service based on the Allele Resource Model produced by the Data Modeling WG. An overview of the Allele Registry implementation is available here.
This project is intended to catalogue as many use cases as possible related to the uses of the Allele Registry service. This project allows the community to engage in the discussions surrounding the scope, specification, and prioritization of the various uses for an Allele Registry. The ClinGen Allele Registry project is being designed and developed independently of this effort. However, the initial motivation for capturing use cases around an Allele Registry service were driven by the need to communicate requirements between the analysts and modelers of ClinGen's Variant Curation and Data Modeling teams to the Allele Registry development team.
There is also a need to begin capturing and organizing use cases around an Allele Registry service for a number of other general areas, not least of which is Reporting clinical genetic test results between Labs and Providers. One current notion that is being explored is the idea of a single public Allele Registry service that could meet the specifications of the clinical process so that both knowledgebases of allele/variant knowledge, evidence and assessment along with patient-specific genetic test reporting could share the same identifiers produced by an common Allele Registry service for the purposes of reducing errors, increasing discovery and improving the value of genetic test results directly to the providers and their patients.
The use cases themselves are meant to be very specific, in order to clearly communicate a particular scenarios and the expectations the Allele Registry service would provide. These Use cases will evolve over time and ultimately be finalized based on a community driven process yet to be defined (TBD).
Use Cases will be provided an identifier and categorized or tagged by various aspects or areas of interest (yet to be developed).
The catalog or index of use cases can be found here
Any one may propose a new use case, as well as, suggest changes to existing use cases. All submissions will be managed by the members of this project, but it is the expectation that the original author(s) will remain engaged in the development process and sign off on the end result. (TBD) there may be the need to represent original authorship approval in the documentation.