elimuinformatics / vcf2fhirLinks
vcf2fhir: a utility to convert VCF files into HL7 FHIR format for genomics-EHR integration
☆40Updated last year
Alternatives and similar repositories for vcf2fhir
Users that are interested in vcf2fhir are comparing it to the libraries listed below
Sorting:
- Repository for development of the genomic module of the CDM.☆23Updated 6 years ago
- Repository for the GA4GH phenopacket schema☆92Updated 3 weeks ago
- 🔥 FHIR 101 - A Practical Guide☆42Updated 5 years ago
- Map your disease and phenotype terms to the Open Targets platform ontology☆22Updated last month
- Source for the HL7 Genomics work group's "Clinical Genomics-Reporting" FHIR implementation guide☆26Updated last week
- Data Standards Hackathon for NGS based typing.☆14Updated 3 months ago
- The open-source version of PhenoTips is no longer maintained. PhenoTips makes it simple to record clinical findings observed in patients …☆103Updated 3 years ago
- Ontology for consent codes and data use requirements☆67Updated 3 years ago
- Associations of genomic features, drugs and diseases☆48Updated 3 years ago
- OMOP2OBO: A Python Library for mapping OMOP standardized clinical terminologies to Open Biomedical Ontologies☆93Updated 2 years ago
- Internationalisation of the HPO content☆19Updated 2 years ago
- GA4GH Beacon specification.☆33Updated 2 years ago
- A pipeline that takes clinical notes from EHRs and generate phenotype terms, then generate ranked gene list☆37Updated 2 years ago
- The Unified Phenotype Ontology (uPheno) integrates multiple phenotype ontologies into a unified cross-species phenotype ontology.☆82Updated last month
- An app and library for building, conversion, and validation of GA4GH Phenopackets.☆16Updated 6 months ago
- ☆46Updated 3 weeks ago
- Data Ingestion Pipeline for Monarch☆57Updated 3 years ago
- API for linked biological knowledge☆66Updated 3 years ago
- GA4GH Variation Representation Python Implementation☆61Updated last week
- Github repo for the Experimental Factor Ontology (EFO)☆62Updated last week
- An option to spin cost effective EMR clusters in AWS with Hail and JupyterNotebook installed☆18Updated 5 years ago
- MatchMiner: An open source computational platform for matching genomic profiles to precision cancer medicine clinical trials☆46Updated 3 years ago
- Java library to map LOINC-encoded test results to Human Phenotype Ontology☆33Updated last year
- Data dictionary for the GDC☆55Updated 3 months ago
- Monarch web application and API☆42Updated 5 years ago
- Central repository for the VICC metakb web application☆15Updated last week
- Mondo Disease Ontology☆287Updated this week
- machine learning for genomic variants☆147Updated 2 weeks ago
- Deploy Gen3 using Docker compose☆14Updated 10 months ago
- Collections of GA4GH phenopackets that represent individuals with Mendelian diseases.☆30Updated this week