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243 repositories
mondo-ingest
PublicCoordinating the mondo-ingest with external sourcesmondo
Public templateMondo Disease Ontologymonarch-app
PublicMonarch Initiative website and API- A Python library for discovery of genotype-phenotype associations
pheval-paper
Public- A package to convert cancer data to GA4GH phenopacket
pheval
PublicA framework for empirical evaluation of phenotype matching and prioritisationphenopacket-store
PublicCollections of GA4GH phenopackets that represent individuals with Mendelian diseases.omim
PublicData ingest pipeline for OMIM.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.phenio
PublicAn integrated ontology for Phenomicsmonarch-ingest
PublicData ingest application for Monarch Initiative knowledge graph using Kozaclosurizer
Publiccurategpt
PublicLLM-driven curation assist toolrppr_stats
Publicpheval.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.koza
PublicData transformation framework for LinkML data modelsmaxo-annotation-ingest
Publicmonarch-neo4j
Publicbabelon
PublicA format for language profiles for ontologiespheval.llm
PublicAnalysis of LLMs for Clinical Observationsmic-ingest
Public