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 the GA4GH phenopacket schema☆90Updated 2 weeks ago
- OMOP2OBO: A Python Library for mapping OMOP standardized clinical terminologies to Open Biomedical Ontologies☆91Updated 2 years ago
- Source for the HL7 Genomics work group's "Clinical Genomics-Reporting" FHIR implementation guide☆26Updated last week
- 🔥 FHIR 101 - A Practical Guide☆42Updated 5 years ago
- Repository for development of the genomic module of the CDM.☆23Updated 6 years ago
- ☆45Updated last week
- The open-source version of PhenoTips is no longer maintained.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
- An option to spin cost effective EMR clusters in AWS with Hail and JupyterNotebook installed☆17Updated 5 years ago
- A public reference implementation of HL7 FHIR Genomics Operations (http://build.fhir.org/ig/HL7/genomics-reporting/operations.html)☆32Updated 3 weeks ago
- The Unified Phenotype Ontology (uPheno) integrates multiple phenotype ontologies into a unified cross-species phenotype ontology.☆81Updated last month
- An app and library for building, conversion, and validation of GA4GH Phenopackets.☆16Updated 4 months ago
- Unified repository for the GA4GH Beacon v2 API standard☆32Updated 3 weeks ago
- Data Standards Hackathon for NGS based typing.☆14Updated 2 months ago
- A pipeline that takes clinical notes from EHRs and generate phenotype terms, then generate ranked gene list☆37Updated 2 years ago
- MatchMiner: An open source computational platform for matching genomic profiles to precision cancer medicine clinical trials☆46Updated 3 years ago
- Ontology for consent codes and data use requirements☆67Updated 3 years ago
- Associations of genomic features, drugs and diseases☆48Updated 2 years ago
- GA4GH Beacon specification.☆32Updated 2 years ago
- Java library to map LOINC-encoded test results to Human Phenotype Ontology☆32Updated last year
- Mondo Disease Ontology☆279Updated this week
- A software toolkit for the interconversion of standard data models for phenotypic data☆15Updated last month
- Collections of GA4GH phenopackets that represent individuals with Mendelian diseases.☆28Updated this week
- Repository for the family history/pedigree project☆13Updated 2 years ago
- Ontology for the description of human clinical features☆325Updated this week
- GA4GH Variation Representation Python Implementation☆60Updated this week
- Github repo for the Experimental Factor Ontology (EFO)☆61Updated this week
- API for linked biological knowledge☆66Updated 3 years ago
- ☆30Updated 7 years ago
- Map your disease and phenotype terms to the Open Targets platform ontology☆22Updated last week
- Python Phenopacket Tools☆15Updated 2 weeks ago