Release 4B R5 Final QA

This page is part of the FHIR Specification (v4.3.0: R4B (v5.0.0-draft-final: Final QA Preview for R5 - STU see ballot notes ). The current version which supercedes this version is 5.0.0 . For a full list of available versions, see the Directory of published versions . Page versions: R5 R4B R4

Sequence-genetics-example-breastcancer.json

Example MolecularSequence/breastcancer (JSON)

Clinical Genomics Work Group Maturity Level : N/A Standards Status : Informative Compartments : Patient

Raw JSON ( canonical form + also see JSON Format Specification )

MolecularSequence example for patient with breast cancer gene variant

{
  "resourceType": "MolecularSequence",
  "id": "breastcancer",
  "text": {
    "status": "generated",
    "div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><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\">Resource &quot;breastcancer&quot; </p></div><p><b>type</b>: rna</p><p><b>coordinateSystem</b>: 0</p><p><b>patient</b>: <a href=\"todo.html\">Patient/brcapat</a></p><h3>ReferenceSeqs</h3><table class=\"grid\"><tr><td>-</td><td><b>ReferenceSeqId</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td>*</td><td>Homo sapiens BRCA2, DNA repair associated (BRCA2), mRNA <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (#NM_000059.3)</span></td><td>101488058</td><td>101499444</td></tr></table><h3>Variants</h3><table class=\"grid\"><tr><td>-</td><td><b>Start</b></td><td><b>End</b></td><td><b>ObservedAllele</b></td><td><b>ReferenceAllele</b></td></tr><tr><td>*</td><td>32316186</td><td>32316187</td><td>A</td><td>C</td></tr></table></div>"

  "resourceType" : "MolecularSequence",
  "id" : "breastcancer",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: MolecularSequence</b><a name=\"breastcancer\"> </a></p><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\">Resource MolecularSequence &quot;breastcancer&quot; </p></div><p><b>type</b>: rna</p><p><b>subject</b>: <a href=\"broken-link.html\">Patient/brcapat</a></p><blockquote><p><b>relative</b></p><p><b>coordinateSystem</b>: 0-based interval counting <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA30100-4)</span></p><h3>StartingSequences</h3><table class=\"grid\"><tr><td>-</td><td><b>Sequence[x]</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td>*</td><td>Homo sapiens BRCA2, DNA repair associated (BRCA2), mRNA <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (#NM_000059.3)</span></td><td>101488058</td><td>101499444</td></tr></table><h3>Edits</h3><table class=\"grid\"><tr><td>-</td><td><b>Start</b></td><td><b>End</b></td><td><b>ReplacementSequence</b></td><td><b>ReplacedSequence</b></td></tr><tr><td>*</td><td>32316186</td><td>32316187</td><td>A</td><td>C</td></tr></table></blockquote></div>"

  },
  "type": "rna",
  "coordinateSystem": 0,
  "patient": {
    "reference": "Patient/brcapat"

  "type" : "rna",
  "subject" : {
    "reference" : "Patient/brcapat"

  },
  "referenceSeq": {
    "referenceSeqId": {
      "coding": [
        {
          "system": "http://www.ncbi.nlm.nih.gov/nuccore/",
          "code": "NM_000059.3",
          "display": "Homo sapiens BRCA2, DNA repair associated (BRCA2), mRNA"
        }
      ]

  "relative" : [{
    "coordinateSystem" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "LA30100-4",
        "display" : "0-based interval counting"
      }]

    },
    "windowStart": 101488058,
    "windowEnd": 101499444
  },
  "variant": [
    {
      "start": 32316186,
      "end": 32316187,
      "observedAllele": "A",
      "referenceAllele": "C"
    }
  ]

    "startingSequence" : {
      "sequenceCodeableConcept" : {
        "coding" : [{
          "system" : "http://www.ncbi.nlm.nih.gov/nuccore/",
          "code" : "NM_000059.3",
          "display" : "Homo sapiens BRCA2, DNA repair associated (BRCA2), mRNA"
        }]
      },
      "windowStart" : 101488058,
      "windowEnd" : 101499444
    },
    "edit" : [{
      "start" : 32316186,
      "end" : 32316187,
      "replacementSequence" : "A",
      "replacedSequence" : "C"
    }]
  }]

}

Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.