DiagnosticsPublish-box (todo)
| Clinical Genomics Work Group | Maturity Level: N/A | Standards Status: Informative | Compartments: No defined compartments |
Raw JSON (canonical form + also see JSON Format Specification)
Simple Sequence example 1
{
"resourceType" : "MolecularDefinition",
"id" : "example-sequence1",
"moleculeType" : {
"coding" : [{
"system" : "http://hl7.org/fhir/sequence-type",
"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"
}
}
},
"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"
}
}
},
"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"
}
}]
}
}]
}
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.
FHIR ®© HL7.org 2011+. FHIR R6 hl7.fhir.core#6.0.0-ballot3 generated on Tue, Apr 1, 2025 12:25+1100.
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