FHIR IG analytics| Package | hl7.fhir.uv.cg-incubator |
| Resource Type | ImplementationGuide |
| Id | ImplementationGuide-hl7.fhir.uv.cg-incubator.json |
| FHIR Version | R6 |
| Source | https://build.fhir.org/ig/HL7/cg-incubator/index.html |
| URL | http://hl7.org/fhir/uv/cg-incubator/ImplementationGuide/hl7.fhir.uv.cg-incubator |
| Version | 0.1.0 |
| Status | active |
| Date | 2026-02-17T16:31:55+00:00 |
| Name | FHIRGenomicsResourceIncubator |
| Title | FHIR Genomics Resource Incubator |
| Realm | uv |
| Authority | hl7 |
| Description | This incubator defines the usage of the Clinical Genomics FHIR resources which are evolving in their maturity until they are ready for inclusion in the Normative FHIR Core specification. |
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Note: links and images are rebased to the (stated) source
Generated Narrative: ImplementationGuide hl7.fhir.uv.cg-incubator
Language: en
The official URL for this implementation guide is:
http://hl7.org/fhir/uv/cg-incubator/ImplementationGuide/hl7.fhir.uv.cg-incubator
This incubator defines the usage of the Clinical Genomics FHIR resources which are evolving in their maturity until they are ready for inclusion in the Normative FHIR Core specification.
FHIR
FHIRsmith{
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"version": "0.1.0",
"name": "FHIRGenomicsResourceIncubator",
"title": "FHIR Genomics Resource Incubator",
"status": "active",
"date": "2026-02-17T16:31:55+00:00",
"publisher": "HL7 International / Clinical Genomics",
"contact": [
{
"name": "HL7 International / Clinical Genomics",
"telecom": [
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"description": "This incubator defines the usage of the Clinical Genomics FHIR resources which are evolving in their maturity until they are ready for inclusion in the Normative FHIR Core specification.",
"jurisdiction": [
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"coding": [
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"code": "001",
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"valueString": "DocumentReference"
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],
"reference": {
"reference": "DocumentReference/CNVAnalysis-called"
},
"name": "CNVAnalysis-called",
"description": "CNVAnalysis_called: A sample Document Reference instance representing a BED file that may be used as input or output of a genomic analysis pipeline.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "Group"
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],
"reference": {
"reference": "Group/groupDenovoFamily"
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"name": "Denovo Mutation Example Group",
"description": "[markdown]",
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{
"extension": [
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"reference": {
"reference": "Specimen/denovo-2"
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"name": "denovo-2",
"isExample": false
},
{
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],
"reference": {
"reference": "Specimen/denovo-3"
},
"name": "denovo-3",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
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}
],
"reference": {
"reference": "Patient/denovoChild"
},
"name": "denovoChild",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "Encounter"
}
],
"reference": {
"reference": "Encounter/denovoEncounter"
},
"name": "denovoEncounter",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "Patient"
}
],
"reference": {
"reference": "Patient/denovoFather"
},
"name": "denovoFather",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "Patient"
}
],
"reference": {
"reference": "Patient/denovoMother"
},
"name": "denovoMother",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "DocumentReference"
}
],
"reference": {
"reference": "DocumentReference/example-genomicFile-af1961831-url"
},
"name": "example-genomicFile-af1961831-url",
"description": "A sample Document Reference instance representing a generic genomic file that may ber used as input or output of a genomic analysis pipeline. Homo sapiens MHC class I antigen (HLA-B) gene",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "DocumentReference"
}
],
"reference": {
"reference": "DocumentReference/example-genomicFile-cyp2c19-accession"
},
"name": "example-genomicFile-cyp2c19-accession",
"description": "A sample Document Reference instance representing a generic genomic file that may ber used as input or output of a genomic analysis pipeline. CYP2C19 gene sequence",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "DocumentReference"
}
],
"reference": {
"reference": "DocumentReference/example-genomicFile-cyp2c19-attached"
},
"name": "example-genomicFile-cyp2c19-attached",
"description": "CYP2C19 gene sequence",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "DocumentReference"
}
],
"reference": {
"reference": "DocumentReference/example-genomicFile-cyp2c19-url"
},
"name": "example-genomicFile-cyp2c19-url",
"description": "A sample Document Reference instance representing a generic genomic file that may ber used as input or output of a genomic analysis pipeline. CYP2C19 gene sequence",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "DocumentReference"
}
],
"reference": {
"reference": "DocumentReference/example-genomicFile-hla00001"
},
"name": "example-genomicFile-hla00001",
"description": "A sample Document Reference instance representing a generic genomic file that may ber used as input or output of a genomic analysis pipeline.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "DocumentReference"
}
],
"reference": {
"reference": "DocumentReference/example-genomicFile-mw7162561"
},
"name": "example-genomicFile-mw7162561",
"description": "A sample Document Reference instance representing Homo sapiens isolate 7 BRCA1 (BRCA1) gene, exon 10 and partial cds.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "DocumentReference"
}
],
"reference": {
"reference": "DocumentReference/example-genomicfile-nc00001010-url"
},
"name": "example-genomicfile-nc00001010-url",
"description": "A sample Document Reference instance representing a generic genomic file that may ber used as input or output of a genomic analysis pipeline.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "DocumentReference"
}
],
"reference": {
"reference": "DocumentReference/example-genomicFile-ng0083843"
},
"name": "example-genomicFile-ng0083843",
"description": "A sample Document Reference instance representing Homo sapiens cytochrome P450 family 2 subfamily C member 19 (CYP2C19), RefSeqGene (LRG_584) on chromosome 10.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "DocumentReference"
}
],
"reference": {
"reference": "DocumentReference/example-genomicFile-nm0002513"
},
"name": "example-genomicFile-nm0002513",
"description": "A sample Document Reference instance representing Homo sapiens mutS homolog 2 (MSH2), transcript variant 1, mRNA.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "DocumentReference"
}
],
"reference": {
"reference": "DocumentReference/example-genomicFile-nm0007694"
},
"name": "example-genomicFile-nm0007694",
"description": "(CYP2C19), mRNA",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "DocumentReference"
}
],
"reference": {
"reference": "DocumentReference/example-genomicFile-nm0020245"
},
"name": "example-genomicFile-nm0020245",
"description": "A sample Document Reference instance representing Homo sapiens FMRP translational regulator 1 (FMR1), transcript variant ISO1, mRNA.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "Patient"
}
],
"reference": {
"reference": "Patient/father"
},
"name": "father",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "CodeSystem"
}
],
"reference": {
"reference": "CodeSystem/genomicstudy-changetype"
},
"name": "Genomic Study Change Type",
"description": "The change type relevant to GenomicStudy analysis.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "ValueSet"
}
],
"reference": {
"reference": "ValueSet/genomicstudy-changetype-vs"
},
"name": "Genomic Study Change Type VS",
"description": "The change type of the GenomicStudy analysis.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "CodeSystem"
}
],
"reference": {
"reference": "CodeSystem/genomicstudy-dataformat"
},
"name": "Genomic Study Data Format",
"description": "The data format relevant to genomics. These formats and relevant codes were pulled from [Integrative Genomics Viewer Documentation](https://software.broadinstitute.org/software/igv/FileFormats) by Broad Institute.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "ValueSet"
}
],
"reference": {
"reference": "ValueSet/genomicstudy-dataformat"
},
"name": "Genomic Study Data Format VS",
"description": "The data formats relevant to Genomic Study analysis.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "CodeSystem"
}
],
"reference": {
"reference": "CodeSystem/genomicstudy-methodtype"
},
"name": "Genomic Study Method Type",
"description": "The method type of the GenomicStudy analysis. These method types and relevant codes were pulled from [National Library of Medicine-Genetic Testing Registry](https://www.ncbi.nlm.nih.gov/gtr/) (NCBI-GTR) values of describing different testing methods on various levels: [major method category](https://ftp.ncbi.nlm.nih.gov/pub/GTR/standard_terms/Major_method_category.txt), [method category](https://ftp.ncbi.nlm.nih.gov/pub/GTR/standard_terms/Method_category.txt), and [primary methodology](https://ftp.ncbi.nlm.nih.gov/pub/GTR/standard_terms/Primary_test_methodology.txt)",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "ValueSet"
}
],
"reference": {
"reference": "ValueSet/genomicstudy-methodtype"
},
"name": "Genomic Study Method Type VS",
"description": "The method type of the GenomicStudy analysis.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "CodeSystem"
}
],
"reference": {
"reference": "CodeSystem/genomicstudy-status"
},
"name": "Genomic Study Status",
"description": "The status of the GenomicStudy.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "ValueSet"
}
],
"reference": {
"reference": "ValueSet/genomicstudy-status"
},
"name": "Genomic Study Status VS",
"description": "The status of the GenomicStudy.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "CodeSystem"
}
],
"reference": {
"reference": "CodeSystem/genomicstudy-type"
},
"name": "Genomic Study Type",
"description": "The type relevant to GenomicStudy.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "ValueSet"
}
],
"reference": {
"reference": "ValueSet/genomicstudy-type"
},
"name": "Genomic Study Type VS",
"description": "The type of the GenomicStudy.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "DocumentReference"
}
],
"reference": {
"reference": "DocumentReference/genomicBEDfile"
},
"name": "genomicBEDfile",
"description": "A sample Document Reference instance representing a BED file that may be used as input or output of a genomic analysis pipeline.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "Encounter"
}
],
"reference": {
"reference": "Encounter/genomicEncounter"
},
"name": "genomicEncounter",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "DocumentReference"
}
],
"reference": {
"reference": "DocumentReference/genomicFile1"
},
"name": "genomicFile1",
"description": "A sample Document Reference instance representing a generic genomic file that may ber used as input or output of a genomic analysis pipeline.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "DocumentReference"
}
],
"reference": {
"reference": "DocumentReference/genomicFile2"
},
"name": "genomicFile2",
"description": "A sample Document Reference instance representing a generic genomic file that may ber used as input or output of a genomic analysis pipeline.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "DocumentReference"
}
],
"reference": {
"reference": "DocumentReference/genomicFile3"
},
"name": "genomicFile3",
"description": "A sample Document Reference instance representing a generic genomic file that may ber used as input or output of a genomic analysis pipeline.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "DocumentReference"
}
],
"reference": {
"reference": "DocumentReference/genomicFile4"
},
"name": "genomicFile4",
"description": "A sample Document Reference instance representing a generic genomic file that may ber used as input or output of a genomic analysis pipeline.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "DocumentReference"
}
],
"reference": {
"reference": "DocumentReference/genomicFileFather"
},
"name": "genomicFileFather",
"description": "A sample Document Reference instance representing a generic genomic file that may ber used as input or output of a genomic analysis pipeline.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "DocumentReference"
}
],
"reference": {
"reference": "DocumentReference/genomicFileGroupAsSubject"
},
"name": "genomicFileGroupAsSubject",
"description": "Combined VCF file of a Proband and Parents that may be used as input or output of a genomic analysis pipeline.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "DocumentReference"
}
],
"reference": {
"reference": "DocumentReference/genomicFileMother"
},
"name": "genomicFileMother",
"description": "A sample Document Reference instance representing a generic genomic file that may ber used as input or output of a genomic analysis pipeline.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "DocumentReference"
}
],
"reference": {
"reference": "DocumentReference/genomicFileProband"
},
"name": "genomicFileProband",
"description": "A sample Document Reference instance representing a generic genomic file that may ber used as input or output of a genomic analysis pipeline.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "Patient"
}
],
"reference": {
"reference": "Patient/genomicPatient"
},
"name": "genomicPatient",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "ServiceRequest"
}
],
"reference": {
"reference": "ServiceRequest/genomicServiceRequest"
},
"name": "genomicServiceRequest",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "ServiceRequest"
}
],
"reference": {
"reference": "ServiceRequest/genomicServiceRequest2"
},
"name": "genomicServiceRequest2",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "ServiceRequest"
}
],
"reference": {
"reference": "ServiceRequest/genomicServiceRequest3"
},
"name": "genomicServiceRequest3",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "ServiceRequest"
}
],
"reference": {
"reference": "ServiceRequest/genomicServiceRequest4"
},
"name": "genomicServiceRequest4",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "Specimen"
}
],
"reference": {
"reference": "Specimen/genomicSpecimen"
},
"name": "genomicSpecimen",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "ServiceRequest"
}
],
"reference": {
"reference": "ServiceRequest/genomicSRFather"
},
"name": "genomicSRFather",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "ServiceRequest"
}
],
"reference": {
"reference": "ServiceRequest/genomicSRMother"
},
"name": "genomicSRMother",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "ServiceRequest"
}
],
"reference": {
"reference": "ServiceRequest/genomicSRProband"
},
"name": "genomicSRProband",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "List"
}
],
"reference": {
"reference": "List/GenomicStudy-examples"
},
"name": "GenomicStudy-examples",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "List"
}
],
"reference": {
"reference": "List/GenomicStudy-operations"
},
"name": "GenomicStudy-operations",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "DocumentReference"
}
],
"reference": {
"reference": "DocumentReference/genomicVCFfile"
},
"name": "genomicVCFfile",
"description": "A sample Document Reference instance representing a VCF file that may be used as input or output of a genomic analysis pipeline.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "DocumentReference"
}
],
"reference": {
"reference": "DocumentReference/genomicVCFfile-cnv"
},
"name": "genomicVCFfile-cnv",
"description": "genomicVCFfile_cnv: A sample Document Reference instance representing a VCF file that may be used as input or output of a genomic analysis pipeline.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "DocumentReference"
}
],
"reference": {
"reference": "DocumentReference/genomicVCFfile-simple"
},
"name": "genomicVCFfile-simple",
"description": "genomicVCFfile_simple: A sample Document Reference instance representing a VCF file that may be used as input or output of a genomic analysis pipeline.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "List"
}
],
"reference": {
"reference": "List/MolecularDefinition-examples"
},
"name": "MolecularDefinition-examples",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "List"
}
],
"reference": {
"reference": "List/MolecularDefinition-operations"
},
"name": "MolecularDefinition-operations",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "Patient"
}
],
"reference": {
"reference": "Patient/mother"
},
"name": "mother",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "Device"
}
],
"reference": {
"reference": "Device/NGS-device"
},
"name": "NGS-device",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "Practitioner"
}
],
"reference": {
"reference": "Practitioner/practitioner01"
},
"name": "practitioner01",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "Practitioner"
}
],
"reference": {
"reference": "Practitioner/practitioner02"
},
"name": "practitioner02",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "Patient"
}
],
"reference": {
"reference": "Patient/proband"
},
"name": "proband",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "RelatedPerson"
}
],
"reference": {
"reference": "RelatedPerson/relatedPersonDenovoFather"
},
"name": "relatedPersonDenovoFather",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "RelatedPerson"
}
],
"reference": {
"reference": "RelatedPerson/relatedPersonDenovoMother"
},
"name": "relatedPersonDenovoMother",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "DocumentReference"
}
],
"reference": {
"reference": "DocumentReference/SimpleVariantAnalysis-called"
},
"name": "SimpleVariantAnalysis-called",
"description": "SimpleVariantAnalysis_called: A sample Document Reference instance representing a BED file that may be used as input or output of a genomic analysis pipeline.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "Specimen"
}
],
"reference": {
"reference": "Specimen/specimenFather"
},
"name": "specimenFather",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "Specimen"
}
],
"reference": {
"reference": "Specimen/specimenMother"
},
"name": "specimenMother",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "Specimen"
}
],
"reference": {
"reference": "Specimen/specimenProband"
},
"name": "specimenProband",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "Device"
}
],
"reference": {
"reference": "Device/Triodenovo-SW"
},
"name": "Triodenovo-SW",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "DocumentReference"
}
],
"reference": {
"reference": "DocumentReference/WES-FullSequencedRegion-GRCh38"
},
"name": "WES-FullSequencedRegion-GRCh38",
"description": "WES_FullSequencedRegion_GRCh38: A sample Document Reference instance representing a BED file that may be used as input or output of a genomic analysis pipeline.",
"isExample": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "StructureDefinition:resourcedefn"
}
],
"reference": {
"reference": "StructureDefinition/GenomicStudy"
},
"name": "Genomic Study",
"description": "A set of analyses performed to analyze and generate genomic data."
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "GenomicStudy"
}
],
"reference": {
"reference": "GenomicStudy/example-lungMass"
},
"description": "Whole exome sequencing of lung biopsy. 300 genes are examined for simple variants (SNV, MNV, InDel), and 170 genes are also examined for CNVs. For technical reasons, PIK3CB was deemed uncallable.",
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/GenomicStudy"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "GenomicStudy"
}
],
"reference": {
"reference": "GenomicStudy/example-trio2"
},
"description": "De novo mutation study of the patient. The Prenatal Trio Whole Exome Sequencing (Prenatal Trio WES) test is ordered by a physician and must be accompanied with a consent form and detailed clinical information. In general, the test is used when prenatal imaging detects an anomaly that strongly suggests that there is an underlying genetic etiology. Prenatal Trio WES is often considered only after fetal chromosome microarray analysis has been non-diagnostic.",
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/GenomicStudy"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "GenomicStudy"
}
],
"reference": {
"reference": "GenomicStudy/example"
},
"description": "De novo mutation study of the patient.",
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/GenomicStudy"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "StructureDefinition:resourcedefn"
}
],
"reference": {
"reference": "StructureDefinition/MolecularDefinition"
},
"name": "Molecular Definition",
"description": "Definitional content for a molecular entity, such as a nucleotide or protein sequence."
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-allele1"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-allele2"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-allele3"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-allele4"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-allele5"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-allele6"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-allele7"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-allelesliced-cyp2c19-1016"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-allelesliced-cyp2c19-661"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-allelesliced-cyp2c19-literal-only"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-allelesliced-hla00381"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-allelesliced-pgx-var-1011"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-allelesliced1"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-genomic-cyp2c19-accession"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-genotype1"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-haplotype1"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-haplotype2"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-replaced-sequence"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-replacement-sequence"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-sequence-a-aa-iupac"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-sequence-a-dna-iupac"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-sequence-a"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-sequence-af1961831-url"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-sequence-c"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-sequence-cgg"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-sequence-cyp2c19-Concatenated-regions"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-sequence-cyp2c19-accession"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-sequence-cyp2c19-attached"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-sequence-cyp2c19-downstream-region"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-sequence-cyp2c19-gene-region"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-sequence-cyp2c19-upstream-region"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-sequence-cyp2c19-url"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-sequence-fmr1-cgg-20x-edited-referenced"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-sequence-fmr1-cgg-20x-repeat"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-sequence-fmr1"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-sequence-g"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-sequence-ggc"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-sequence-hla000011"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-sequence-lrg584"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-sequence-msh2"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-sequence-nc00001010-url"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-sequence-nm0007694-url"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-sequence-repeat"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-sequence-t"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-sequence0-2b-concatenated"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-sequence1-2b-concatenated"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-sequence1"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-sequence2-2b-concatenated"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-starting-sequence-2b-extracted"
},
"isExample": true,
"profile": [
"http://hl7.org/fhir/StructureDefinition/MolecularDefinition"
]
},
{
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/resource-information",
"valueString": "MolecularDefinition"
}
],
"reference": {
"reference": "MolecularDefinition/example-starting-sequence-2b-relative"
},
"isExample": true,
"profile": [
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