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243 repositories
oncopacket
PublicA package to convert cancer data to GA4GH phenopacket- Mondo Disease Ontology
gpsea
PublicA Python library for discovery of genotype-phenotype associationskghub-downloader
Publicmonarch-ingest
PublicData ingest application for Monarch Initiative knowledge graph using Kozamedgen
Publicomim
PublicData ingest pipeline for OMIM.rppr_stats
Publicontogpt
PublicLLM-based ontological extraction tools, including SPIREShpotools
Publicphenio
PublicAn integrated ontology for Phenomicsmondo-ingest
PublicCoordinating the mondo-ingest with external sourcesmonarch-app
PublicMonarch Initiative website and APIphenopacket2prompt
PublicGA4GH Phenopacket to LLM promptphenotype2phenopacket
PublicPhenotype2Phenopacket is a command-line tool that converts a phenotype annotation into GA4GH Phenopackets, facilitating standardised phenotypic data representation.pheval-paper
Publicpheval
PublicA framework for empirical evaluation of phenotype matching and prioritisationphenopacket-store
PublicCollections of GA4GH phenopackets that represent individuals with Mendelian diseases.pyphetools
PublicPython Phenopacket Toolsmondo-curation-analysis
Publicmonarchr
PublicR package for easy access, manipulation, and analysis of the Monarch Initiative or other KGX-formatted knowledge graphs.closurizer
Publiccurategpt
PublicLLM-driven curation assist toolpheval.phen2gene
PublicA PhEval plugin for integrating Phen2Gene, enabling gene prioritisation based on phenotypic data in a standardised pipeline.monarch-qc
PublicQC
Publicphenomics-assistant
PublicLLM retrieval augmented generation agent for the Monarch Knowledge graph.