{
  "resourceType" : "Basic",
  "id" : "genomic-test-example-1",
  "meta" : {
    "profile" : ["https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/genomic-test"]
  },
  "text" : {
    "status" : "extensions",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Basic genomic-test-example-1</b></p><a name=\"genomic-test-example-1\"> </a><a name=\"hcgenomic-test-example-1\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-genomic-test.html\">Genomic Test</a></p></div><p><b>Reference Genome ID relationship</b>: <a href=\"Basic-reference-genome-grch38.html\">Basic GRCh38</a></p><p><b>Genomic Test Name</b>: ExomeSeq v1</p><p><b>Genomic Test Version</b>: 1.2.3</p><p><b>Sequencing device</b>: Illumina NovaSeq 6000</p><p><b>Target capture</b>: Exome capture kit XYZ v5</p><p><b>Read type</b>: Paired-end</p><p><b>Read length</b>: 150</p><p><b>Mean target coverage</b>: 120.5</p><p><b>Per target base cover x100</b>: 95.3</p><p><b>Alignment tools</b>: BWA-MEM 0.7.17</p><p><b>Variant calling tools</b>: GATK HaplotypeCaller 4.2.0</p><p><b>Chromosome coordinate</b>: GRCh38 (1-based, inclusive)</p><p><b>Annotation tools</b>: VEP 104</p><p><b>Annotation databases</b>: gnomAD v3.1, ClinVar 2025-01, dbNSFP 4.3</p><p><b>identifier</b>: <code>https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/NamingSystem/genomic-test-id</code>/GT0001</p><p><b>code</b>: <span title=\"Codes:{https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/CodeSystem/genomic-test-type exome}\">Exome sequencing</span></p></div>"
  },
  "extension" : [{
    "url" : "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/genomic-test-reference-genome",
    "valueReference" : {
      "reference" : "Basic/reference-genome-grch38"
    }
  },
  {
    "url" : "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/genomic-test-name",
    "valueString" : "ExomeSeq v1"
  },
  {
    "url" : "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/genomic-test-version",
    "valueString" : "1.2.3"
  },
  {
    "url" : "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/genomic-test-sequencing-device",
    "valueString" : "Illumina NovaSeq 6000"
  },
  {
    "url" : "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/genomic-test-target-capture",
    "valueString" : "Exome capture kit XYZ v5"
  },
  {
    "url" : "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/genomic-test-read-type",
    "valueString" : "Paired-end"
  },
  {
    "url" : "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/genomic-test-read-length",
    "valueInteger" : 150
  },
  {
    "url" : "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/genomic-test-mean-target-coverage",
    "valueDecimal" : 120.5
  },
  {
    "url" : "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/genomic-test-per-target-base-cover-100x",
    "valueDecimal" : 95.3
  },
  {
    "url" : "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/genomic-test-alignment-tools",
    "valueString" : "BWA-MEM 0.7.17"
  },
  {
    "url" : "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/genomic-test-variant-calling-tools",
    "valueString" : "GATK HaplotypeCaller 4.2.0"
  },
  {
    "url" : "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/genomic-test-chromosome-corrdinate",
    "valueString" : "GRCh38 (1-based, inclusive)"
  },
  {
    "url" : "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/genomic-test-annotation-tools",
    "valueString" : "VEP 104"
  },
  {
    "url" : "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/genomic-test-annotation-databases",
    "valueString" : "gnomAD v3.1, ClinVar 2025-01, dbNSFP 4.3"
  }],
  "identifier" : [{
    "system" : "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/NamingSystem/genomic-test-id",
    "value" : "GT0001"
  }],
  "code" : {
    "coding" : [{
      "system" : "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/CodeSystem/genomic-test-type",
      "code" : "exome",
      "display" : "Exome sequencing"
    }]
  }
}