phenol: Phenotype ontology library

The implementation of paper "HPOFiller: identifying missing protein-phenotype associations by graph convolutional network".

EXPERIMENTAL rendering of phenopackets in linkml

HPODNets: deep graph convolutional networks for predicting human protein-phenotype associations

DEMO example knowledge base created using DRAGON-AI

Functions for working with the Human Phenotype Ontology data

The implementation of HPOLabeler, which has been published on Bioinformatics (Title: "HPOLabeler: improving prediction of human protein–phenotype associations by learning to rank", DOI: https://doi.org/10.1093/bioinformatics/btaa284). The source codes are for reference only, please do not upload them to other platforms. Due to requirements of my…

GA4GH Phenopacket to LLM prompt

Annotations to terms of the Medical Action Ontology (MAxO)

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

Repository to develop layperson descriptions of rare diseases

Gene prioritisation tool using a weighted network methodology based on Gene Ontology and Human Phenotype Ontology annotations to infer closely related genes to given genes of interest.

Multi-Scale Target Explorer systematically identifies, prioritises, and visualises cell-type-specific gene therapy targets across the phenome.

NCBI Medical Genetics, UMLS Unified Medical Language System Concepts and PubMed linked citations

PhenoUnit testing framework