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238 repositories
phenio
PublicAn integrated ontology for Phenomicsgpsea
PublicA Python library for discovery of genotype-phenotype associations- Analysis of LLMs for Clinical Observations
- GA4GH Phenopacket to LLM prompt
- Mondo Disease Ontology
- Phenotype2Phenopacket is a command-line tool that converts a phenotype annotation into GA4GH Phenopackets, facilitating standardised phenotypic data representation.
- Coordinating the mondo-ingest with external sources
- Annotations to terms of the Medical Action Ontology (MAxO)
phenopacket-store
PublicCollections of GA4GH phenopackets that represent individuals with Mendelian diseases.- Data ingest pipeline for OMIM.
ontogpt
PublicLLM-based ontological extraction tools, including SPIRES- Monarch Initiative website and API
kghub-downloader
Publicexomiser.reranking
Publickoza
PublicData transformation framework for LinkML data models- Data ingest application for Monarch Initiative knowledge graph using Koza
closurizer
Publiccurategpt
PublicLLM-driven curation assist toolmaxo-annotation-ingest
Publicgo-ingest
Publicbiogrid-ingest
Publicpheval.exomiser
Public