User guide

Phenopacket Store Toolkit is a Python package and CLI for managing Phenopacket Store, a collection of GA4GH Phenopacket cohorts that represent individuals with Mendelian diseases.

The toolkit aids the release and Q/C processes, and simplifies access to the Phenopacket Store data from the downstream applications.

We use this tool kit to manage releases of the Phenopacket Store. The toolkit also offers functionality that will be of interest to users of phenopacket store data, especially the Load Phenopacket Store functionality.