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240 repositories
- Mondo Disease Ontology
mondo-ingest
PublicCoordinating the mondo-ingest with external sources- Monarch Initiative website and API
pheval
PublicA framework for empirical evaluation of phenotype matching and prioritisationmonarch-ingest
PublicData ingest application for Monarch Initiative knowledge graph using Kozacurategpt
PublicLLM-driven curation assist tool- An integrated ontology for Phenomics
rppr_stats
Publicpheval.phen2gene
PublicA PhEval plugin for integrating Phen2Gene, enabling gene prioritisation based on phenotypic data in a standardised pipeline.gpsea
PublicA Python library for discovery of genotype-phenotype associationsmonarch-qc
PublicQC
Publicphenomics-assistant
PublicLLM 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 phenopacketmaxo-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 prompt