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Contributing

Contributions to phenopacket store are welcome. The scope of phenopacket store comprises cohorts of indiduals with rare disease with deep phenotype as well as genotypic data.

There are many ways of contributing. For most users, we recommend using the Excel template. Optionally, the corresponding python code can be used to generate phenopackets, or the HPO team can perform the conversion.

Developers

Alternatively, the pyphetools library can be used to ingest tabular data efficiently. Almost all of the notebooks in this repository were created from Supplemental tables from published articles using the pyphetools library, and users can learn how to use it by studying the notebooks listed on the Collections page.