HL7 / genomics-reportingLinks
Source for the HL7 Genomics work group's "Clinical Genomics-Reporting" FHIR implementation guide
☆26Updated last month
Alternatives and similar repositories for genomics-reporting
Users that are interested in genomics-reporting are comparing it to the libraries listed below
Sorting:
- vcf2fhir: a utility to convert VCF files into HL7 FHIR format for genomics-EHR integration☆40Updated last year
- 🔥 FHIR 101 - A Practical Guide☆42Updated 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
- Repository for the GA4GH phenopacket schema☆91Updated this 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- The open-source version of PhenoTips is no longer maintained.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
- Data dictionary for the GDC☆55Updated 3 months ago
- Java library to map LOINC-encoded test results to Human Phenotype Ontology☆33Updated last year
- GA4GH Variation Representation Python Implementation☆61Updated this week
- Repository for development of the genomic module of the CDM.☆23Updated 6 years ago
- A repository for the schemas used for the Data Repository Service.☆63Updated 2 weeks ago
- Associations of genomic features, drugs and diseases☆48Updated 3 years ago
- Ontology for the description of human clinical features☆329Updated last week
- Main OMOPonFHIR Settings☆46Updated 3 years ago
- GCP Variant Transforms☆141Updated 5 months ago
- Collections of GA4GH phenopackets that represent individuals with Mendelian diseases.☆30Updated last week
- Ontology for consent codes and data use requirements☆67Updated 3 years ago
- loinc2hpo Annotation Data☆26Updated 3 years ago
- An app store for scientific workflows, tools, notebooks, and services☆130Updated this week
- An app and library for building, conversion, and validation of GA4GH Phenopackets.☆16Updated 5 months ago
- Mondo Disease Ontology☆285Updated last week
- OMOP2OBO: A Python Library for mapping OMOP standardized clinical terminologies to Open Biomedical Ontologies☆92Updated 2 years ago
- Extensible specification for representing and uniquely identifying biological sequence variation☆94Updated last week
- A Tool to Annotate and Prioritize Exome Variants☆232Updated this week
- Oncology Working Group Repository☆58Updated 2 months ago
- GWAS Catalog Ontology and Curation Infrastructure☆26Updated last month
- Internationalisation of the HPO content☆19Updated 2 years ago
- FHIR Shorthand☆46Updated last year
- CLI, Desktop GUI, and Standalone Server for the FHIR Validator☆43Updated 2 weeks ago
- Human Phenotype Ontology Workbench☆22Updated 2 years ago
- This is the repository for the Python based program for automated deep phenotype analysis of clinical information using large language mo…☆20Updated 2 months ago