Clinical Genomics Resource Incubator
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Clinical Genomics Resource Incubator, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 0.1.0-ci-build built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/cg-incubator/ and changes regularly. See the Directory of published versions

ValueSet: Genomic Study Region Type VS (Experimental)

Official URL: http://hl7.org/fhir/uv/cg-incubator/ValueSet/genomicstudy-regiontype Version: 0.1.0-ci-build
Standards status: Draft Draft as of 2026-03-24 Maturity Level: 1 Computable Name: GenomicStudyRegionTypeVS

The type or status of a set of genomic regions within a GenomicStudy analysis (studied, called, or uncalled).

References

Logical Definition (CLD)

 

Expansion

Expansion performed internally based on codesystem Genomic Study Region Type v0.1.0-ci-build (CodeSystem)

This value set contains 3 concepts

SystemCodeDisplay (en)DefinitionJSONXML
http://hl7.org/fhir/uv/cg-incubator/CodeSystem/genomicstudy-regiontype  studiedStudiedGenomic regions targeted by the analysis. This represents the full intended scope of the analysis (e.g., a gene panel, exome, or genome). May be expressed as a coded list of gene symbols or a reference to a BED file.
http://hl7.org/fhir/uv/cg-incubator/CodeSystem/genomicstudy-regiontype  calledCalledThe subset of studied genomic regions where there was sufficient coverage and data quality to produce variant calls. Regions not represented here were either uncalled or not studied.
http://hl7.org/fhir/uv/cg-incubator/CodeSystem/genomicstudy-regiontype  uncalledUncalledGenomic regions that were within the scope of the analysis (i.e., studied) but for which no variant calls were produced. This does not imply that a pathogenic variant was present or missed; it indicates that data quality was insufficient to make calls in these regions. Common reasons include low sequencing coverage, poor mapping quality, or technical limitations of the assay. Use the genomicRegion.description element to document the specific reason.

Description of the above table(s).