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240 repositories
- Mondo Disease Ontology
maxo-annotation-ingest
Public- Coordinating the mondo-ingest with external sources
monarch-ingest
PublicData ingest application for Monarch Initiative knowledge graph using Koza- Monarch Initiative website and API
oncoexporter
PublicA package to convert cancer data to GA4GH phenopacket- Data transformation framework for LinkML data models
phenopacket-store
PublicCollections of GA4GH phenopackets that represent individuals with Mendelian diseases.pyphetools
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
Publicgpsea
PublicA Python library for discovery of genotype-phenotype associationspheval
PublicA framework for empirical evaluation of phenotype matching and prioritisationmaxo-annotations
PublicAnnotations to terms of the Medical Action Ontology (MAxO)medgen
Publicomim
PublicData ingest pipeline for OMIM.setsim
Publicgo-ingest
Publicalliance-genotype-ingest
Publicclinvar-ingest
Publicncbi-gene
Public