This repository offers cohorts of GA4GH Phenopackets that represent individuals with Mendelian diseases.

Please see the online documentation for information about available cohorts.

Phenopacket store releases are available for download from the Releases section.

The latest release is available at a stable download URL, depending on the archive format:

ZIP

https://github.com/monarch-initiative/phenopacket-store/releases/latest/download/all_phenopackets.zip

TAR GZ

https://github.com/monarch-initiative/phenopacket-store/releases/latest/download/all_phenopackets.tgz

The cohorts were curated from data medical publications, mainly by parsing the tables or supplemental tables. The curation was done in Jupyter notebooks using pyphetools library. Pull requests with additional notebooks in the same style are welcome.