GUI to build and modify Phenotype Algorithm Specification Ontologies
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Updated
Sep 14, 2020 - Java
GUI to build and modify Phenotype Algorithm Specification Ontologies
The QC software for the OBO version of HPO
PhenoUnit testing framework
The QC software for the OWL version of HPO (only text-checks, not so much logic included)
HPO web browser created with Vaadin
Indonesia Exome Rare Disease Variant Discovery Pipeline. Phenotype analysis part available on Streamlit and PyPi
IdeRare Phenotype Analysis suite : Convert Indonesia SATUSEHAT terminology (SNOMED-CT, LOINC, ICD-10) to Rare Disease Terminology / Ontology (HPO, OMIM) and find the likelihood differential gene and disease explaining patient phenotype
Code to generate ontology annotated objects (e.g. HPO annotated patients)
🐟 Zebrafish Phenotype Ontology: Build Tools (OBSOLETE)
Exploratory Research -- Clustering Similar Patients by Phenotype
Python library to work with HPO (Human Phenotype Ontology) terms and their gene/disease associations
Small program to query OMIM and store output in a local sqlite database.
Website for the Phenomics and Machine Learning Team
Project to generate phenotype opposite_of relationships and investigate the effect on ontology-based algorithms
Bayesian ontology querying from Bauer et al.
Package to serve public and freely-available data from rare disease patients.
HPO archive of the ontology and annotations
Crossmapped phenotype ontologies for the oncology domain
Scripts, data files and ontologies for the FLOPO project
Ontology for phenotypes pertaining to the nematode Caenorhabditis elegans and related nematodes used by the nematode genome database WormBase
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