phenopackets

monarch-initiative/phenopacket-store

Collections of GA4GH phenopackets that represent individuals with Mendelian diseases.

phenopackets/phenopacket-tools

An app and library for building, conversion, and validation of GA4GH Phenopackets.

cmungall/linkml-phenopackets

EXPERIMENTAL rendering of phenopackets in linkml

phenopackets/phenopacket-python

phenopackets/phenopacket-reference-implementation

Reference java implementation for phenopackets

monarch-initiative/gpsea

A Python library for discovery of genotype-phenotype associations

monarch-initiative/pheval.llm

Analysis of LLMs for Clinical Observations

bento-platform/katsu

Phenopackets-based metadata service for the Bento platform. Docs: https://metadata-service.readthedocs.io

CNAG-Biomedical-Informatics/convert-pheno-ui

The web UI for Convert-Pheno, a software toolkit for the interconversion of standard data models for phenotypic data

phenopackets/pxftools

A command line utility for operating over Phenotype eXchange Format (PXF) files.

monarch-initiative/phenopacket2prompt

GA4GH Phenopacket to LLM prompt

monarch-initiative/phenotype2phenopacket

Phenotype2Phenopacket is a command-line tool that converts a phenotype annotation into GA4GH Phenopackets, facilitating standardised phenotypic data representation.

phenopackets/omop-exporter

Export Phenopackets from OMOP

pnrobinson/phenotools

Validation of phenopackets in C++

BIH-CEI/phenopacket_mapper

A Python library to map from any bespoke tabular data format to the GA4GH Phenopacket schema.

EATRIS/phenopackets_template

floherzler/SAMS-phenopackets-thesis

Importing and exporting Phenopackets from and to the SAMS application. Resources used in my BSc Thesis @ FU Berlin.

phenopackets/phenopackets-js

JavaScript API for working with Phenopackets