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Example MolecularDefinition/example-sequence-fmr1-cgg-20x-edited-contained (JSON)

Clinical Genomics Work GroupMaturity Level: N/AStandards Status: InformativeCompartments: No defined compartments

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

Example of Sequence of FMR1 using CGG motifs edited by contained referenced sequence resources

{
  "resourceType" : "MolecularDefinition",
  "id" : "example-sequence-fmr1-cgg-20x-edited-contained",
  "contained" : [{
    "resourceType" : "MolecularDefinition",
    "id" : "replacement",
    "moleculeType" : {
      "coding" : [{
        "system" : "http://hl7.org/fhir/sequence-type",
        "code" : "dna",
        "display" : "DNA Sequence"
      }]
    },
    "representation" : [{
      "literal" : {
        "value" : "A"
      }
    }]
  },
  {
    "resourceType" : "MolecularDefinition",
    "id" : "replaced",
    "moleculeType" : {
      "coding" : [{
        "system" : "http://hl7.org/fhir/sequence-type",
        "code" : "dna",
        "display" : "DNA Sequence"
      }]
    },
    "representation" : [{
      "literal" : {
        "value" : "C"
      }
    }]
  }],
  "moleculeType" : {
    "coding" : [{
      "system" : "http://hl7.org/fhir/sequence-type",
      "code" : "dna",
      "display" : "DNA Sequence"
    }]
  },
  "representation" : [{
    "relative" : {
      "startingMolecule" : {
        "reference" : "MolecularDefinition/example-sequence-fmr1-cgg-20x-repeat",
        "type" : "MolecularDefinition",
        "display" : "CGG 20X"
      },
      "edit" : [{
        "coordinateInterval" : {
          "coordinateSystem" : {
            "system" : {
              "coding" : [{
                "system" : "http://loinc.org",
                "code" : "LA30102-0",
                "display" : "1-based character counting"
              }],
              "text" : "1-based character counting"
            }
          }
        },
        "replacementMolecule" : {
          "reference" : "#replacement",
          "type" : "MolecularDefinition",
          "display" : "A"
        },
        "replacedMolecule" : {
          "reference" : "#replaced",
          "type" : "MolecularDefinition",
          "display" : "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.