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HL7 FHIR Genomics Operations - Reference Implementation

This site contains source code for a public reference implementation of HL7 FHIR Genomics Operations.

FHIR Genomics operations are based on the premise that genomic data, in FHIR format and/or some other format (e.g. VCF format), are stored in a repository, either in or alongside an EHR, possibly along with phenotype annotations. The FHIR Genomics operations essentially 'wrap' the repository, presenting a uniform interface to applications, regardless of internal repository data structures.

All patient data used in this implementation is either synthetic or publicly available and anonymized. All data and code used in this implementation is open-sourced.

Contact info@elimu.io for comments on this Reference Implementation.