phenopacket

Here are 4 public repositories matching this topic...

EGA-archive / beacon2-ri-tools

Beacon v2 Reference Implementation (Data ingestion tools)

bioinformatics mongodb genomics phenotypic reference-implementation bff phenopacket ega-archive beacon-v2 beacon-friendly-format

Updated Aug 8, 2023
Perl

phenopackets / omop-exporter

Star

Export Phenopackets from OMOP

omop phenopackets phenopacket omop-cdm-database

Updated Nov 11, 2021
Java

mrueda / RD-Connect_to_beaconv2

Star

Scripts to convert RD-Connect data to Beacon v2

bioinformatics bff phenopacket rd-connect beaconv2

Updated May 13, 2022
Shell

Ian18858863 / hackachusetts-2026

Star

Rare Disease Detective: turns a patient's own words into HPO phenotype terms, evidence-backed possible rare conditions, next questions and a specialist-ready brief. Decision support, not a diagnosis. Built at Sundai with Kiro (spec-driven, hooks, custom agents, MCP, property-based tests).

hackathon healthcare property-based-testing ga4gh hpo clinical-decision-support phenopacket cloudflare-workers human-phenotype-ontology rare-disease spec-driven-development kiro

Updated Oct 24, 2026
TypeScript

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