Genomics Reporting Implementation Guide
3.0.0 - release International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

: FindStudyMetadataOutput - JSON Representation

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{
  "resourceType" : "Parameters",
  "id" : "FindStudyMetadataOutput",
  "parameter" : [
    {
      "name" : "tests",
      "part" : [
        {
          "name" : "testId",
          "valueString" : "test08736abc87"
        },
        {
          "name" : "testDate",
          "valueDateTime" : "2020-07-13"
        },
        {
          "name" : "specimenId",
          "valueString" : "specimen9652adbg69"
        },
        {
          "name" : "genomicBuild",
          "valueCodeableConcept" : {
            "coding" : [
              {
                "system" : "http://loinc.org",
                "code" : "LA26806-2",
                "display" : "GRCh38"
              }
            ]
          }
        },
        {
          "name" : "dnaChangeType",
          "valueCodeableConcept" : {
            "coding" : [
              {
                "system" : "http://www.sequenceontology.org",
                "code" : "SO:0001483",
                "display" : "SNV"
              },
              {
                "system" : "http://www.sequenceontology.org",
                "code" : "SO:0002007",
                "display" : "MNV"
              },
              {
                "system" : "http://www.sequenceontology.org",
                "code" : "SO:1000032",
                "display" : "delins"
              },
              {
                "system" : "http://www.sequenceontology.org",
                "code" : "SO:0001019",
                "display" : "copy_number_variation"
              }
            ]
          }
        },
        {
          "name" : "regionStudied",
          "valueString" : "['NC_000007.14:55019016-55019365', 'NC_000007.14:55142285-55142437', 'NC_000007.14:55143304-55143488', 'NC_000007.14:55146605-55146740', 'NC_000007.14:55151293-55151362', 'NC_000007.14:55152545-55152664', 'NC_000007.14:55154010-55154152', 'NC_000007.14:55155829-55155946', 'NC_000007.14:55156532-55156659', 'NC_000007.14:55156758-55156832', 'NC_000007.14:55157662-55157753', 'NC_000007.14:55160138-55160338', 'NC_000007.14:55161498-55161631', 'NC_000007.14:55163732-55163823', 'NC_000007.14:55165279-55165437', 'NC_000007.14:55171174-55171213', 'NC_000007.14:55172982-55173124', 'NC_000007.14:55173920-55174043', 'NC_000007.14:55174721-55174820', 'NC_000007.14:55181292-55181478', 'NC_000007.14:55191718-55191874', 'NC_000007.14:55192765-55192841', 'NC_000007.14:55198716-55198863', 'NC_000007.14:55200315-55200413', 'NC_000007.14:55201187-55201355', 'NC_000007.14:55201734-55201782', 'NC_000007.14:55202516-55202625', 'NC_000007.14:55205255-55211628']"
        },
        {
          "name" : "uncallableRegions",
          "valueString" : "['NC_000007.14:55173910-55174053', 'NC_000007.14:55174711-55174830', 'NC_000007.14:55181282-55181488']"
        }
      ]
    }
  ]
}