Sequence-example.json

Example of a patient with a EGFR mutation associated with lung cancer

{
  "resourceType": "Sequence",
  "id": "example",
  "text": {
    "status": "generated",
    "div": "<div><p><b>Generated Narrative with Details</b></p><p><b>id</b>: example</p><p><b>type</b>: DNA</p><p><b>variationID</b>: rs587778247 <span>(Details : {http://www.ncbi.nlm.nih.gov/projects/SNP code '587778247' = '??)</span></p><p><b>referenceSeq</b>: ENSESTT00000085772.1 <span>(Details : {http://www.ensembl.org code 'ENSESTT00000085772.1' = '??)</span></p><h3>Coordinates</h3><table><tr><td>-</td><td><b>Chromosome</b></td><td><b>Start</b></td><td><b>End</b></td><td><b>GenomeBuild</b></td></tr><tr><td>*</td><td>7 <span>(Details )</span></td><td>55227976</td><td>55227977</td><td>GRCh37 <span>(Details )</span></td></tr></table><p><b>species</b>: Homo sapiens <span>(Details : {SNOMED CT code '337915000' = '??)</span></p><p><b>observedAllele</b>: T</p><p><b>referenceAllele</b>: A</p><h3>Repositories</h3><table><tr><td>-</td><td><b>Url</b></td><td><b>Name</b></td><td><b>VariantId</b></td><td><b>ReadGroupSetId</b></td></tr><tr><td>*</td><td><a>https://www.googleapis.com/genomics/v1beta2</a></td><td>ga4gh</td><td>A1A2</td><td>B1B2</td></tr></table></div>"
  },
  "type": "DNA",
  "variationID": [
    {
      "coding": [
        {
          "system": "http://www.ncbi.nlm.nih.gov/projects/SNP",
          "code": "587778247"
        }
      ],
      "text": "rs587778247"
    }
  ],
  "referenceSeq": {
    "coding": [
      {
        "system": "http://www.ensembl.org",
        "code": "ENSESTT00000085772.1"
      }
    ],
    "text": "ENSESTT00000085772.1"
  },
  "coordinate": [
    {
      "chromosome": {
        "text": "7"
      },
      "start": 55227976,
      "end": 55227977,
      "genomeBuild": {
        "text": "GRCh37"
      }
    }
  ],
  "species": {
    "coding": [
      {
        "system": "http://snomed.info/sct",
        "code": "337915000"
      }
    ],
    "text": "Homo sapiens"
  },
  "observedAllele": "T",
  "referenceAllele": "A",
  "repository": [
    {
      "url": "https://www.googleapis.com/genomics/v1beta2",
      "name": "ga4gh",
      "variantId": "A1A2",
      "readGroupSetId": "B1B2"
    }
  ]
}