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213 repositories
ontogpt
PublicLLM-based ontological extraction tools, including SPIRES- Mondo Disease Ontology
- Monarch Initiative website and API
gpsea
PublicA Python library for discovery of genotype-phenotype associationsphenotype2phenopacket
PublicPhenotype2Phenopacket is a command-line tool that converts a phenotype annotation into GA4GH Phenopackets, facilitating standardised phenotypic data representation.pheval-paper
Publiconcopacket
PublicA package to convert cancer data to GA4GH phenopacketpheval
PublicA framework for empirical evaluation of phenotype matching and prioritisationphenopacket-store
PublicCollections of GA4GH phenopackets that represent individuals with Mendelian diseases.mondo-curation-analysis
Publicmonarchr
PublicR package for easy access, manipulation, and analysis of the Monarch Initiative or other KGX-formatted knowledge graphs.monarch-ingest
PublicData ingest application for Monarch Initiative knowledge graph using Kozaclosurizer
Publiccurategpt
PublicLLM-driven curation assist toolpheval.phen2gene
PublicA PhEval plugin for integrating Phen2Gene, enabling gene prioritisation based on phenotypic data in a standardised pipeline.phenomics-assistant
PublicLLM retrieval augmented generation agent for the Monarch Knowledge graph.maxo-annotation-ingest
Publicmondo-ingest
PublicCoordinating the mondo-ingest with external sourcespyphetools
PublicPython Phenopacket Toolsbabelon
PublicA format for language profiles for ontologiesmic-ingest
Publicmaxo-annotations
PublicAnnotations to terms of the Medical Action Ontology (MAxO)pheval.llm
PublicAnalysis of LLMs for Clinical Observationsmonarch-documentation
Publicmonarch-mapping-commons
PublicMAxO
PublicMedical action ontologyomim
PublicData ingest pipeline for OMIM.