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    40 repositories

    • bio-ontollm

      Public
      Approaches to biomedical knowledge: Ontologies and Large Language Models
      Python
      •
      MIT License
      •0•0•0•0•Updated Apr 26, 2026Apr 26, 2026

    • phenoboard

      Public
      HPO Curation with Phenopackets
      hpoga4gh-phenopacket
      hpoga4gh-phenopacket
      TypeScript
      •
      MIT License
      •3•8•6•1•Updated Apr 26, 2026Apr 26, 2026

    • Ontologizer-Tauri

      Public
      Ontologizer Tauri App
      TypeScript
      •1•0•4•0•Updated Apr 24, 2026Apr 24, 2026

    • PhenoXtract

      Public
      A configurable ETL pipeline for converting structured tabular data sources into Phenopackets
      etlphenopacketsetl-pipeline
      etlphenopacketsetl-pipelinebih
      Rust
      •0•2•37•3•Updated Apr 24, 2026Apr 24, 2026

    • ppkt2synergy

      Public
      Phenopacket to Synergy
      Python
      •
      BSD 3-Clause "New" or "Revised" License
      •0•0•4•0•Updated Apr 24, 2026Apr 24, 2026

    • hrmdbq

      Public
      Human Regulatory Mutation Database Curation
      TypeScript
      •
      MIT License
      •0•0•2•0•Updated Apr 23, 2026Apr 23, 2026

    • ontologizer

      Public
      Fast and safe implementation of the Ontologizer
      Rust
      •
      MIT License
      •0•0•1•0•Updated Apr 22, 2026Apr 22, 2026

    • fenominal

      Public
      Rust (ferric oxide) version of fenominal
      Rust
      •
      MIT License
      •0•2•0•0•Updated Apr 19, 2026Apr 19, 2026

    • ga4ghphetools

      Public
      Rust implementation of GA4GH Phenopacket Schema Tooling
      Rust
      •
      BSD 3-Clause "New" or "Revised" License
      •0•1•5•0•Updated Apr 18, 2026Apr 18, 2026

    • maxodiff

      Public
      Medical Action Ontology terms for differential diagnosis
      Java
      •
      MIT License
      •0•3•6•0•Updated Apr 16, 2026Apr 16, 2026

    • ontology-registry

      Public
      Ontology-Registry is a Rust crate designed to seamlessly fetch, manage, and persist ontology files directly from the OBO Foundry.
      Rust
      •
      MIT License
      •0•0•1•0•Updated Apr 10, 2026Apr 10, 2026

    • hpo2hra

      Public
      Prototype the interaction between HPO and HRA web resources
      TypeScript
      •0•0•1•0•Updated Apr 8, 2026Apr 8, 2026

    • beacon-api

      Public
      A beacon fast api skeleton
      Python
      •
      Other
      •0•1•1•0•Updated Apr 2, 2026Apr 2, 2026

    • prenatalppkt

      Public
      Prenatal phenopacket library
      Python
      •
      Other
      •0•1•7•0•Updated Apr 1, 2026Apr 1, 2026

    • cieinr

      Public
      repository for the data mode of the Canadian Inborn Errors of Immunity National Registry (CIEINR)
      Python
      •
      Other
      •0•0•3•0•Updated Mar 31, 2026Mar 31, 2026

    • go2hpo_genetic_algorithm

      Public
      Rust
      •1•0•0•0•Updated Mar 27, 2026Mar 27, 2026

    • gpsea

      Public
      A Python library for discovery of genotype-phenotype associations
      hpophenopacketsgenotype-phenotype
      hpophenopacketsgenotype-phenotype
      Python
      •
      MIT License
      •1•12•13•0•Updated Mar 24, 2026Mar 24, 2026

    • Exomiser

      Public
      A Tool to Annotate and Prioritize Exome Variants
      Java
      •
      GNU Affero General Public License v3.0
      •65•0•0•2•Updated Mar 23, 2026Mar 23, 2026

    • BOQA

      Public
      Java implementation of the Bayesian Ontology Query Algorithm (BOQA)
      Java
      •
      GNU Affero General Public License v3.0
      •0•0•6•0•Updated Mar 18, 2026Mar 18, 2026

    • utrfx

      Public
      Compute features for untranslated regions in Python
      Python
      •0•0•0•1•Updated Mar 11, 2026Mar 11, 2026

    • HpoWorkshop

      Public
      Materials for a Workshop to Introduce the Human Phenotype Ontology
      GNU General Public License v3.0
      •0•0•0•0•Updated Feb 16, 2026Feb 16, 2026

    • hpotools

      Public
      Human Phenotype Ontology tools
      Java
      •
      MIT License
      •0•1•2•2•Updated Feb 8, 2026Feb 8, 2026

    • ontolius

      Public
      A fast and safe crate for working with biomedical ontologies
      Rust
      •
      GNU General Public License v3.0
      •2•3•0•0•Updated Jan 16, 2026Jan 16, 2026

    • phenopacket2prompt

      Public
      GA4GH Phenopacket to LLM prompt
      monarchinitiativephenopacketshuman-phenotype-ontology
      monarchinitiativephenopacketshuman-phenotype-ontologydeep-phenotypinglarge-language-modelsprompt-engineering
      Java
      •
      MIT License
      •1•7•5•0•Updated Jan 16, 2026Jan 16, 2026

    • phenosentry

      Public
      A python package that ensures data quality for a phenopacket or collection of phenopackets.
      Python
      •
      BSD 2-Clause "Simplified" License
      •0•2•0•0•Updated Jan 8, 2026Jan 8, 2026

    • phenotron

      Public
      The newest prime of the transformers for phenopackets
      Python
      •0•3•1•2•Updated Jan 8, 2026Jan 8, 2026

    • phenopacket_tools

      Public
      phenopacket tools
      Rust
      •
      BSD 3-Clause "New" or "Revised" License
      •0•1•0•0•Updated Dec 16, 2025Dec 16, 2025

    • phenopacket-builder

      Public
      A Rust crate to streamline programmatic assembly of Phenopacket Schema building blocks
      Rust
      •
      GNU General Public License v3.0
      •0•2•1•0•Updated Dec 12, 2025Dec 12, 2025

    • oboannotation

      Public
      Rust
      •
      MIT License
      •0•0•0•0•Updated Dec 9, 2025Dec 9, 2025

    • dabuild

      Public
      Just give me that genome build
      Rust
      •
      GNU General Public License v3.0
      •0•0•0•0•Updated Nov 28, 2025Nov 28, 2025
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