monarch-initiative / phenopacket-store
Collections of GA4GH phenopackets that represent individuals with Mendelian diseases.
☆23Updated 2 weeks ago
Alternatives and similar repositories for phenopacket-store:
Users that are interested in phenopacket-store are comparing it to the libraries listed below
- Repository for the GA4GH phenopacket schema☆84Updated 6 months ago
- Python Phenopacket Tools☆15Updated 2 months ago
- Human Phenotype Ontology Workbench☆18Updated last year
- LIkelihood Ratio Interpretation of Clinical AbnormaLities☆25Updated last month
- The Unified Phenotype Ontology (uPheno) integrates multiple phenotype ontologies into a unified cross-species phenotype ontology.☆78Updated last month
- ☆26Updated 5 years ago
- Java library to map LOINC-encoded test results to Human Phenotype Ontology☆31Updated last year
- LLM retrieval augmented generation agent for the Monarch Knowledge graph.☆21Updated this week
- loinc2hpo Annotation Data☆24Updated 2 years ago
- phenol: Phenotype ontology library☆23Updated last week
- Python library for extracting HPO encoded phenotypes from text☆29Updated 11 months ago
- Github repo for the Experimental Factor Ontology (EFO)☆57Updated last week
- 🗺️ Community curated and predicted equivalences and related mappings between named biological entities that are not available from prima…☆52Updated last month
- Medical action ontology☆55Updated 3 months ago
- A package to transform all OBO ontologies into KGX TSV format and OBO json, and put the transformed graph in KGhub☆32Updated last year
- PATO - the Phenotype And Trait Ontology☆58Updated 3 weeks ago
- source files for OBA (Ontology of Biological Attributes)☆27Updated this week
- A combined deep learning tool for automated recognition of human phenotype ontology☆24Updated 2 years ago
- Repo to organise the mouse-human phenotype mapping initiative and reconcile resources.☆13Updated 2 months ago
- Internationalisation of the HPO content☆19Updated 2 years ago
- An app and library for building, conversion, and validation of GA4GH Phenopackets.☆13Updated last year
- Ontology Based Profile Matching☆17Updated 2 years ago
- a web application to search and navigate the Human Phenotype Ontology (HPO)☆14Updated last month
- Semantic data model of the set of common data elements for rare disease registration☆12Updated last year
- Data Ingestion Pipeline for Monarch☆57Updated 2 years ago
- Communitiy-based Cell Line Ontology☆18Updated 9 months ago
- Perform text mining for identification of HPO terms in free text from scientific publication.☆12Updated 8 months ago
- Questions and answers about TOPmed, GTEx, and AGR resources.☆8Updated 6 years ago
- A phenotype-based tool for variant prioritization in WES and WGS data☆37Updated 2 years ago
- ☆32Updated 2 months ago