phenol: Phenotype ontology library
-
Updated
Jul 10, 2024 - Java
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
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…
Functions for working with the Human Phenotype Ontology data
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
Add a description, image, and links to the human-phenotype-ontology topic page so that developers can more easily learn about it.
To associate your repository with the human-phenotype-ontology topic, visit your repo's landing page and select "manage topics."