Release 4

Sequence-example-TPMT-two.xml

Clinical Genomics Work GroupMaturity Level: N/AStandards Status: InformativeCompartments: Patient

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

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Example of another TPMT SNP data that support a haplotype observation (id = "example-TPMT-two")

<?xml version="1.0" encoding="UTF-8"?>

<MolecularSequence xmlns="http://hl7.org/fhir">
    <id value="example-TPMT-two"/> 
    <text> <status value="generated"/> <div xmlns="http://www.w3.org/1999/xhtml"><p> <b> Generated Narrative with Details</b> </p> <p> <b> id</b> : example-TPMT-two</p> <p> <b> type</b> : dna</p> <p> <b> coordinateSystem</b> : 1</p> <p> <b> patient</b> : <a> Patient/example</a> </p> <h3> ReferenceSeqs</h3> <table> <tr> <td> -</td> <td> <b> ReferenceSeqId</b> </td> <td> <b> Strand</b> </td> <td> <b> WindowStart</b> </td> <td> <b> WindowEnd</b> </td> </tr> <tr> <td> *</td> <td> NT_007592.15 <span> (Details : {http://www.ncbi.nlm.nih.gov/nuccore code 'NT_007592.15' = 'NT_007592.15)</span> </td> <td> watson</td> <td> 18130918</td> <td> 18143955</td> </tr> </table> <h3> Variants</h3> <table> <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> 18131012</td> <td> 18131012</td> <td> T</td> <td> C</td> </tr> </table> <p> <b> observedSeq</b> : T-C-T-C-G-C-C-C</p> </div> </text> <type value="dna"/> 
    <coordinateSystem value="1"/> 
    <patient> 
        <reference value="Patient/example"/> 
    </patient> 
    <referenceSeq> 
        <referenceSeqId> 
          <coding> 
            <system value="http://www.ncbi.nlm.nih.gov/nuccore"/> 
            <code value="NT_007592.15"/> 
          </coding> 
        </referenceSeqId> 
        <strand value="watson"/> 
        <windowStart value="18130918"/> 
        <windowEnd value="18143955"/> 
    </referenceSeq> 
    <variant> 
        <start value="18131012"/> 
        <end value="18131012"/> 
        <observedAllele value="T"/> 
        <referenceAllele value="C"/> 
    </variant> 
    <observedSeq value="T-C-T-C-G-C-C-C"/> 
</MolecularSequence> 

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.