Crossmapped phenotype ontologies for the oncology domain
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Updated
Feb 7, 2025 - R
Crossmapped phenotype ontologies for the oncology domain
A command line utility for operating over Phenotype eXchange Format (PXF) files.
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
Indonesia Exome Rare Disease Variant Discovery Pipeline. Phenotype analysis part available on Streamlit and PyPi
Core Ontology of Phenotyping
Add a description, image, and links to the phenotype-exchange-format topic page so that developers can more easily learn about it.
To associate your repository with the phenotype-exchange-format topic, visit your repo's landing page and select "manage topics."