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240 repositories
- Mondo Disease Ontology
monarch-qc
PublicQC
Publicgpsea
PublicA Python library for discovery of genotype-phenotype associationsmonarch-ingest
PublicData ingest application for Monarch Initiative knowledge graph using Kozaclosurizer
Publicmondo-ingest
PublicCoordinating the mondo-ingest with external sourcesmonarch-app
PublicMonarch Initiative website and API- LLM retrieval augmented generation agent for the Monarch Knowledge graph.
koza
PublicData transformation framework for LinkML data modelsoncoexporter
PublicA package to convert cancer data to GA4GH phenopacketpheval-paper
Publicmaxo-annotation-ingest
Publicphenopacket-store
PublicCollections of GA4GH phenopackets that represent individuals with Mendelian diseases.medgen
Publicomim
PublicData ingest pipeline for OMIM.monarch-neo4j
Publicpyphetools
PublicPython Phenopacket Toolsbabelon
PublicA format for language profiles for ontologiespheval.llm
PublicAnalysis of LLMs for Clinical Observationsmic-ingest
Publicphenotype2phenopacket
PublicPhenotype2Phenopacket is a command-line tool that converts a phenotype annotation into GA4GH Phenopackets, facilitating standardised phenotypic data representation.phenopacket2prompt
PublicGA4GH Phenopacket to LLM promptmondo-curation-analysis
Publicpheval
PublicA framework for empirical evaluation of phenotype matching and prioritisationmaxo-annotations
PublicAnnotations to terms of the Medical Action Ontology (MAxO)setsim
Publicgo-ingest
Public