Repository for the GA4GH phenopacket schema

Collections of GA4GH phenopackets that represent individuals with Mendelian diseases.

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

EXPERIMENTAL rendering of phenopackets in linkml

Reference java implementation for phenopackets

A Python library for discovery of genotype-phenotype associations

Analysis of LLMs for Clinical Observations

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

Phenopackets/FHIR-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.

GA4GH Phenopacket to LLM prompt

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.

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

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

JavaScript API for working with Phenopackets