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Category
Implementation Guide
Version
2.0.0
Access
Open
Status
Trial
Updated
May 2022
This implementation guide focuses on data structures for genomics data reporting that support interoperability. It does not address workflows. The implementation guide is based on the Fast Healthcare Interoperability Resources (FHIR) standard and uses FHIR-specific terminology, notations and design principles.

Main sections:

• Home page

• Genomics background

• General genomic reporting

• Variant reporting

• Pharmacogenomic reporting

• Somatic reporting

• Histocompatibility and immunogenetics reporting

• Operations

• Useful downloads

• Appendix A: Relation to v2 reporting

• Appendix B: Clinical genomic apps

• Appendix C: HL7 Domain Analysis Model

• Appendix D: Query guidance

• Appendix E: External coding systems

• Appendix F: Conversion from STU3 extensions

• Appendix G: Molecular sequence

• Appendix H: Grouping guidance

• Appendix I: Glossary

• Artifacts summary
Access HL7 FHIR Implementation Guide: Genomics Reporting Implementation Guide v2.0.0

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