A Python library to work with, analyze, filter and inspect the Human Phenotype Ontology

A MatchMaker Exchange server

Website for the Phenomics and Machine Learning Team

A REST-API wrapper around PyHPO to handle the Human Phenotype Ontology (HPO) through HTTP(S)

Python library to work with HPO (Human Phenotype Ontology) terms and their gene/disease associations

Code for embedding human phenotype ontology (HPO) using Node2Vec and incorporating phenotype frequencies from a hospital-size dataset. Showcased in the linked paper.

PhenoUnit testing framework

Estudio del carácter patogénico de variantes humanas mediante deep learning. Fine-tuning de BERT para la representación de enfermedades: un método de aprendizaje sobre datasets de textos biomédicos.