Clinical Genomics Resource Incubator
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Clinical Genomics Resource Incubator, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 0.1.0-ci-build built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/cg-incubator/ and changes regularly. See the Directory of published versions

: Molecular Definition Sequence 1

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{
  "resourceType" : "MolecularDefinition",
  "resourceDefinition" : "http://hl7.org/fhir/StructureDefinition/MolecularDefinition|0.1.0-ci-build",
  "id" : "example-sequence1",
  "language" : "en",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\" xml:lang=\"en\" lang=\"en\"><p class=\"res-header-id\"><b>Generated Narrative: MolecularDefinition example-sequence1</b></p><a name=\"example-sequence1\"> </a><a name=\"hcexample-sequence1\"> </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\">Language: en</p></div><p><b>moleculeType</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/cg-incubator/CodeSystem/moleculardefinition-moleculetype dna}\">DNA sequence</span></p><blockquote><p><b>representation</b></p><h3>Literals</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Value</b></td></tr><tr><td style=\"display: none\">*</td><td>ATGAACAGACAAGTAAAAGACATGACAGYGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTC TTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCTAGCCTTCCAAGAGAAGAAAAA GAAGAGAAACTAGAAACAGTTAAAGTGTCTAATAATGCTGAAGACCCCAAAGATCTCATGTTAAGTGGAG AAAGGGTTTTGCAAACTGAAAGATCTGTAGAGAGTAGCAGTATTTCAYTGGTACCTGGTACTGATTATGG CACTCAGGAAAGTATCTCGTTACTGGAAGTTAGCACTCTAGGGAAGGCAAAAACAGAACCAAATAAATGT GTGAGTCAGTGTGCAGCATTTGAAAACCCCAAGGGACTAATTCATGGTTGTTCCAAAGATAATAGAAATG ACACAGAAGGCTTTAAGTATCCATTGGGACATGAAGTTAACCACAGTCGGGAAACAAGCATAGAAATGGA AGAAAGTGAACTTGATGCTCAGTATTTGCAGAATACATTCAAGGTTTCAAAGCGCCAGTCATTTGCTCYG TTTTCAAATCCAGGAAATGCAGAAGAGGAATGTGCAACATTCTCTGCCCACTCTGGGTCCTTAAAGAAAC AAAGTCCAAAAGTCACTTTTGAATGTGAACAAAAGGAAGAAAATCAAGGAAAGAATGAGTCTAATATCAA GCCTGTACAGACAGTTAATATCACTGCAGGCTTTCCTGTGGTTGGTCAGAAAGA</td></tr></table><p><b>resolvable</b>: <a href=\"DocumentReference-example-genomicFile-mw7162561.html\">DocumentReference: identifier = http://example.org/identifiers/files#11111; status = current; docStatus = preliminary; description = A sample Document Reference instance representing Homo sapiens isolate 7 BRCA1 (BRCA1) gene, exon 10 and partial cds.</a></p><blockquote><p><b>extracted</b></p><p><b>startingMolecule</b>: <a href=\"MolecularDefinition-example-starting-sequence-2b-extracted.html\">Starting Sequence Resource:                 ATGAACAGACAAGTAAAAGACATGACAGYGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTC                 TTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCTAGCCTTCCAAGAGAAGAAAAA                 GAAGAGAAACTAGAAACAGTTAAAGTGTCTAATAATGCTGAAGACCCCAAAGATCTCATGTTAAGTGGAG                 AAAGGGTTTTGCAAACTGAAAGATCTGTAGAGAGTAGCAGTATTTCAYTGGTACCTGGTACTGATTATGG                 CACTCAGGAAAGTATCTCGTTACTGGAAGTTAGCACTCTAGGGAAGGCAAAAACAGAACCAAATAAATGT                 GTGAGTCAGTGTGCAGCATTTGAAAACCCCAAGGGACTAATTCATGGTTGTTCCAAAGATAATAGAAATG                 ACACAGAAGGCTTTAAGTATCCATTGGGACATGAAGTTAACCACAGTCGGGAAACAAGCATAGAAATGGA                 AGAAAGTGAACTTGATGCTCAGTATTTGCAGAATACATTCAAGGTTTCAAAGCGCCAGTCATTTGCTCYG                 TTTTCAAATCCAGGAAATGCAGAAGAGGAATGTGCAACATTCTCTGCCCACTCTGGGTCCTTAAAGAAAC                 AAAGTCCAAAAGTCACTTTTGAATGTGAACAAAAGGAAGAAAATCAAGGAAAGAATGAGTCTAATATCAA                 GCCTGTACAGACAGTTAATATCACTGCAGGCTTTCCTGTGGTTGGTCAGAAAGAGCCTGTACAGACAGTT                 AATATCACTGCAGGCTTTCCTGTGGTTGGTCAGAAAGA</a></p><blockquote><p><b>coordinateInterval</b></p><h3>CoordinateSystems</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>System</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://loinc.org LA30100-4}\">0-based interval counting</span></td></tr></table><p><b>start</b>: 0</p><p><b>end</b>: 754</p></blockquote><p><b>reverseComplement</b>: false</p></blockquote><blockquote><p><b>concatenated</b></p><blockquote><p><b>sequenceElement</b></p><p><b>sequence</b>: <a href=\"MolecularDefinition-example-sequence0-2b-concatenated.html\">Sequence-of index 0-Resource for concatenated sequence example:                     ATGAACAGACAAGTAAAAGACATGACAGYGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTC TTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCTAGCCTTCCAAGAGAAGAAAAA GAAGAGAAACTAGAAACAGTTAAAGTGTCTAATAATGCTGAAGACCCCAAAGATCTCATGTTAAGTGGAG</a></p><p><b>ordinalIndex</b>: 0</p></blockquote><blockquote><p><b>sequenceElement</b></p><p><b>sequence</b>: <a href=\"MolecularDefinition-example-sequence1-2b-concatenated.html\">Sequence-of index 1-Resource for concatenated sequence example:                     AAAGGGTTTTGCAAACTGAAAGATCTGTAGAGAGTAGCAGTATTTCAYTGGTACCTGGTACTGATTATGG CACTCAGGAAAGTATCTCGTTACTGGAAGTTAGCACTCTAGGGAAGGCAAAAACAGAACCAAATAAATGT GTGAGTCAGTGTGCAGCATTTGAAAACCCCAAGGGACTAATTCATGGTTGTTCCAAAGATAATAGAAATG ACACAGAAGGCTTTAAGTATCCATTGGGACATGAAGTTAACCACAGTCGGGAAACAAGCATAGAAATGGA AGAAAGTGAACTTGATGCTCAGTATTTGCAGAATACATTCAAGGTTTCAAAGCGCCAGTCATTTGCTCYG</a></p><p><b>ordinalIndex</b>: 1</p></blockquote><blockquote><p><b>sequenceElement</b></p><p><b>sequence</b>: <a href=\"MolecularDefinition-example-sequence2-2b-concatenated.html\">Sequence-of index 2-Resource for concatenated sequence example:                     TTTTCAAATCCAGGAAATGCAGAAGAGGAATGTGCAACATTCTCTGCCCACTCTGGGTCCTTAAAGAAAC AAAGTCCAAAAGTCACTTTTGAATGTGAACAAAAGGAAGAAAATCAAGGAAAGAATGAGTCTAATATCAA GCCTGTACAGACAGTTAATATCACTGCAGGCTTTCCTGTGGTTGGTCAGAAAGA</a></p><p><b>ordinalIndex</b>: 2</p></blockquote></blockquote><blockquote><p><b>relative</b></p><p><b>startingMolecule</b>: <a href=\"MolecularDefinition-example-starting-sequence-2b-relative.html\">Starting Sequence Resource</a></p><blockquote><p><b>edit</b></p><blockquote><p><b>coordinateInterval</b></p><h3>CoordinateSystems</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>System</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://loinc.org LA30100-4}\">0-based interval counting</span></td></tr></table><p><b>start</b>: 0</p><p><b>end</b>: 5</p></blockquote><p><b>replacementMolecule</b>: <a href=\"MolecularDefinition-example-replacement-sequence.html\">Replacement Sequence Resource: ATGAA</a></p><p><b>replacedMolecule</b>: <a href=\"MolecularDefinition-example-replaced-sequence.html\">Replaced Sequence Resource: CCCCC</a></p></blockquote></blockquote></blockquote></div>"
  },
  "moleculeType" : {
    "coding" : [
      {
        "system" : "http://hl7.org/fhir/uv/cg-incubator/CodeSystem/moleculardefinition-moleculetype",
        "code" : "dna",
        "display" : "DNA sequence"
      }
    ]
  },
  "representation" : [
    {
      "literal" : {
        "value" : "ATGAACAGACAAGTAAAAGACATGACAGYGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTC TTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCTAGCCTTCCAAGAGAAGAAAAA GAAGAGAAACTAGAAACAGTTAAAGTGTCTAATAATGCTGAAGACCCCAAAGATCTCATGTTAAGTGGAG AAAGGGTTTTGCAAACTGAAAGATCTGTAGAGAGTAGCAGTATTTCAYTGGTACCTGGTACTGATTATGG CACTCAGGAAAGTATCTCGTTACTGGAAGTTAGCACTCTAGGGAAGGCAAAAACAGAACCAAATAAATGT GTGAGTCAGTGTGCAGCATTTGAAAACCCCAAGGGACTAATTCATGGTTGTTCCAAAGATAATAGAAATG ACACAGAAGGCTTTAAGTATCCATTGGGACATGAAGTTAACCACAGTCGGGAAACAAGCATAGAAATGGA AGAAAGTGAACTTGATGCTCAGTATTTGCAGAATACATTCAAGGTTTCAAAGCGCCAGTCATTTGCTCYG TTTTCAAATCCAGGAAATGCAGAAGAGGAATGTGCAACATTCTCTGCCCACTCTGGGTCCTTAAAGAAAC AAAGTCCAAAAGTCACTTTTGAATGTGAACAAAAGGAAGAAAATCAAGGAAAGAATGAGTCTAATATCAA GCCTGTACAGACAGTTAATATCACTGCAGGCTTTCCTGTGGTTGGTCAGAAAGA"
      },
      "resolvable" : {
        🔗 "reference" : "DocumentReference/example-genomicFile-mw7162561"
      },
      "extracted" : {
        "startingMolecule" : {
          🔗 "reference" : "MolecularDefinition/example-starting-sequence-2b-extracted",
          "type" : "MolecularDefinition",
          "display" : "Starting Sequence Resource:                 ATGAACAGACAAGTAAAAGACATGACAGYGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTC                 TTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCTAGCCTTCCAAGAGAAGAAAAA                 GAAGAGAAACTAGAAACAGTTAAAGTGTCTAATAATGCTGAAGACCCCAAAGATCTCATGTTAAGTGGAG                 AAAGGGTTTTGCAAACTGAAAGATCTGTAGAGAGTAGCAGTATTTCAYTGGTACCTGGTACTGATTATGG                 CACTCAGGAAAGTATCTCGTTACTGGAAGTTAGCACTCTAGGGAAGGCAAAAACAGAACCAAATAAATGT                 GTGAGTCAGTGTGCAGCATTTGAAAACCCCAAGGGACTAATTCATGGTTGTTCCAAAGATAATAGAAATG                 ACACAGAAGGCTTTAAGTATCCATTGGGACATGAAGTTAACCACAGTCGGGAAACAAGCATAGAAATGGA                 AGAAAGTGAACTTGATGCTCAGTATTTGCAGAATACATTCAAGGTTTCAAAGCGCCAGTCATTTGCTCYG                 TTTTCAAATCCAGGAAATGCAGAAGAGGAATGTGCAACATTCTCTGCCCACTCTGGGTCCTTAAAGAAAC                 AAAGTCCAAAAGTCACTTTTGAATGTGAACAAAAGGAAGAAAATCAAGGAAAGAATGAGTCTAATATCAA                 GCCTGTACAGACAGTTAATATCACTGCAGGCTTTCCTGTGGTTGGTCAGAAAGAGCCTGTACAGACAGTT                 AATATCACTGCAGGCTTTCCTGTGGTTGGTCAGAAAGA"
        },
        "coordinateInterval" : {
          "coordinateSystem" : {
            "system" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "LA30100-4",
                  "display" : "0-based interval counting"
                }
              ],
              "text" : "0-based interval counting"
            }
          },
          "startQuantity" : {
            "value" : 0
          },
          "endQuantity" : {
            "value" : 754
          }
        },
        "reverseComplement" : false
      },
      "concatenated" : {
        "sequenceElement" : [
          {
            "sequence" : {
              🔗 "reference" : "MolecularDefinition/example-sequence0-2b-concatenated",
              "type" : "MolecularDefinition",
              "display" : "Sequence-of index 0-Resource for concatenated sequence example:                     ATGAACAGACAAGTAAAAGACATGACAGYGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTC TTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCTAGCCTTCCAAGAGAAGAAAAA GAAGAGAAACTAGAAACAGTTAAAGTGTCTAATAATGCTGAAGACCCCAAAGATCTCATGTTAAGTGGAG"
            },
            "ordinalIndex" : 0
          },
          {
            "sequence" : {
              🔗 "reference" : "MolecularDefinition/example-sequence1-2b-concatenated",
              "type" : "MolecularDefinition",
              "display" : "Sequence-of index 1-Resource for concatenated sequence example:                     AAAGGGTTTTGCAAACTGAAAGATCTGTAGAGAGTAGCAGTATTTCAYTGGTACCTGGTACTGATTATGG CACTCAGGAAAGTATCTCGTTACTGGAAGTTAGCACTCTAGGGAAGGCAAAAACAGAACCAAATAAATGT GTGAGTCAGTGTGCAGCATTTGAAAACCCCAAGGGACTAATTCATGGTTGTTCCAAAGATAATAGAAATG ACACAGAAGGCTTTAAGTATCCATTGGGACATGAAGTTAACCACAGTCGGGAAACAAGCATAGAAATGGA AGAAAGTGAACTTGATGCTCAGTATTTGCAGAATACATTCAAGGTTTCAAAGCGCCAGTCATTTGCTCYG"
            },
            "ordinalIndex" : 1
          },
          {
            "sequence" : {
              🔗 "reference" : "MolecularDefinition/example-sequence2-2b-concatenated",
              "type" : "MolecularDefinition",
              "display" : "Sequence-of index 2-Resource for concatenated sequence example:                     TTTTCAAATCCAGGAAATGCAGAAGAGGAATGTGCAACATTCTCTGCCCACTCTGGGTCCTTAAAGAAAC AAAGTCCAAAAGTCACTTTTGAATGTGAACAAAAGGAAGAAAATCAAGGAAAGAATGAGTCTAATATCAA GCCTGTACAGACAGTTAATATCACTGCAGGCTTTCCTGTGGTTGGTCAGAAAGA"
            },
            "ordinalIndex" : 2
          }
        ]
      },
      "relative" : {
        "startingMolecule" : {
          🔗 "reference" : "MolecularDefinition/example-starting-sequence-2b-relative",
          "type" : "MolecularDefinition",
          "display" : "Starting Sequence Resource"
        },
        "edit" : [
          {
            "coordinateInterval" : {
              "coordinateSystem" : {
                "system" : {
                  "coding" : [
                    {
                      "system" : "http://loinc.org",
                      "code" : "LA30100-4",
                      "display" : "0-based interval counting"
                    }
                  ],
                  "text" : "0-based interval counting"
                }
              },
              "startQuantity" : {
                "value" : 0
              },
              "endQuantity" : {
                "value" : 5
              }
            },
            "replacementMolecule" : {
              🔗 "reference" : "MolecularDefinition/example-replacement-sequence",
              "type" : "MolecularDefinition",
              "display" : "Replacement Sequence Resource: ATGAA"
            },
            "replacedMolecule" : {
              🔗 "reference" : "MolecularDefinition/example-replaced-sequence",
              "type" : "MolecularDefinition",
              "display" : "Replaced Sequence Resource: CCCCC"
            }
          }
        ]
      }
    }
  ]
}