elimuinformatics / vcf2fhir
vcf2fhir: a utility to convert VCF files into HL7 FHIR format for genomics-EHR integration
☆37Updated 5 months ago
Alternatives and similar repositories for vcf2fhir:
Users that are interested in vcf2fhir are comparing it to the libraries listed below
- Repository for development of the genomic module of the CDM.☆20Updated 5 years ago
- Source for the HL7 Genomics work group's "Clinical Genomics-Reporting" FHIR implementation guide☆20Updated 2 months ago
- Repository for the GA4GH phenopacket schema☆84Updated 4 months ago
- An app and library for building, conversion, and validation of GA4GH Phenopackets.☆13Updated last year
- A pipeline that takes clinical notes from EHRs and generate phenotype terms, then generate ranked gene list☆36Updated last year
- Python Phenopacket Tools☆15Updated 3 weeks ago
- loinc2hpo Annotation Data☆24Updated 2 years ago
- OMOP2OBO: A Python Library for mapping OMOP standardized clinical terminologies to Open Biomedical Ontologies☆86Updated last year
- Associations of genomic features, drugs and diseases☆48Updated 2 years ago
- 🔥 FHIR 101 - A Practical Guide☆39Updated 4 years ago
- The Unified Phenotype Ontology (uPheno) integrates multiple phenotype ontologies into a unified cross-species phenotype ontology.☆78Updated 3 weeks ago
- ☆44Updated this week
- The open-source version of PhenoTips is no longer maintained. PhenoTips makes it simple to record clinical findings observed in patients …☆101Updated 2 years ago
- ☆26Updated 6 years ago
- GA4GH Variation Representation Python Implementation☆53Updated this week
- Map your disease and phenotype terms to the Open Targets platform ontology☆21Updated 2 months ago
- Java library to map LOINC-encoded test results to Human Phenotype Ontology☆30Updated last year
- Internationalisation of the HPO content☆19Updated last year
- Extensible specification for representing and uniquely identifying biological sequence variation☆85Updated this week
- phenol: Phenotype ontology library☆23Updated 7 months ago
- Ontology for consent codes and data use requirements☆67Updated 2 years ago
- LIkelihood Ratio Interpretation of Clinical AbnormaLities☆25Updated 2 weeks ago
- Repository for the family history/pedigree project☆12Updated 2 years ago
- Code for classifying unstructured text to tissue ontology terms using natural language processing and machine learning.☆23Updated 5 months ago
- Data Ingestion and Harmonization☆43Updated last year
- THIS IS THE OLD REPO: Use this one instead: https://github.com/monarch-initiative/mondo-build☆17Updated 4 years ago
- Python library for extracting HPO encoded phenotypes from text☆28Updated 9 months ago
- Collections of GA4GH phenopackets that represent individuals with Mendelian diseases.☆22Updated last week
- Github repo for the Experimental Factor Ontology (EFO)☆58Updated last month
- Community-maintained list of resources that the CI4CC organization and the larger cancer informatics community have found useful or are d…☆22Updated 6 years ago