Repository for the GA4GH phenopacket schema
-
Updated
Nov 6, 2026 - Java
GeezerVisonThe World Wide Web, restored to 800 pixels of glory. |
| Home|About|Gaming cabinet|Archives|How it works|Starter sites |
GeezerVison is showing github.com — Build software better, together
#
phenopacketsHere are 26 public repositories matching this topic...Language: All
Filter by language
Sort: Most stars
Sort options
Collections of GA4GH phenopackets that represent individuals with Mendelian diseases.
An app and library for building, conversion, and validation of GA4GH Phenopackets.
A Python library for discovery of genotype-phenotype associations
EXPERIMENTAL rendering of phenopackets in linkml
Analysis of LLMs for Clinical Observations
hpo monarchinitiative phenopackets clinical-diagnosis biomedical-ontologies rare-diseases large-language-models
GA4GH Phenopacket to LLM prompt
monarchinitiative phenopackets human-phenotype-ontology deep-phenotyping large-language-models prompt-engineering
Reference java implementation for phenopackets
The web UI for Convert-Pheno, a software toolkit for the interconversion of standard data models for phenotypic data
Phenopackets-based metadata service for the Bento platform. Docs: https://metadata-service.readthedocs.io
A command line utility for operating over Phenotype eXchange Format (PXF) files.
Validation of phenopackets in C++
Export Phenopackets from OMOP
Phenotype2Phenopacket is a command-line tool that converts a phenotype annotation into GA4GH Phenopackets, facilitating standardised phenotypic data representation.
Research prototype for rare disease differential diagnosis support, not for clinical use. From a clinical note to a ranked, explained list of diseases: learned fusion of an HPO ontology ranker with GPT-6 Luna and Gemini, 26.0% top-1 vs 15.6% for the best single LLM on 500 held-out patients.
python docker bioinformatics hackathon bifrost healthcare lightgbm learning-to-rank ga4gh phenopackets clinical-decision-support human-phenotype-ontology fastapi medical-ai rare-diseases llm differential-diagnosis langgraph tavily
A Python library to map from any bespoke tabular data format to the GA4GH Phenopacket schema.
Importing and exporting Phenopackets from and to the SAMS application. Resources used in my BSc Thesis @ FU Berlin.
Structured rare-disease case data mined from the literature, with per-field provenance and a reproducible benchmark against 4,147 expert-curated phenopackets
text-mining bioinformatics reproducible-research information-extraction open-data hpo phenopackets rare-disease
Add this topic to your repoTo associate your repository with the phenopackets topic, visit your repo's landing page and select "manage topics." |
| You are visitor 01402520 — GeezerVison does not store the pages you look up. Best viewed with Netscape Navigator 4.7 or Internet Explorer 6 at 800×600. No cookies required. |