This repository offers a collection of GA4GH Phenopackets that represent individuals with Mendelian disease.
This repository contains notebooks that use the pyphentools library to construct phenopackets from data available in medical publications. Often, tables or supplemental tables were parsed. Pull requests with additional notebooks in the same style are welcome.
pyphetools can be installed from PyPI:
pip install pyphetools
Please see the online documentation for information about available genes.