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

CodeSystem: Genomic Study Region Type (Experimental)

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

The type or status of a set of genomic regions within a GenomicStudy analysis, indicating the relationship of those regions to the analysis outcome.

This Code system is referenced in the definition of the following value sets:

This case-sensitive code system http://hl7.org/fhir/uv/cg-incubator/CodeSystem/genomicstudy-regiontype defines the following codes:

CodeDisplayDefinition
studied Studied Genomic 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.
called Called The 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.
uncalled Uncalled Genomic 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).