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.
- Excel template
- Python (Jupyter) notebook for the template
- pyphetools documentation about using the Excel template.
- variant notation
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.