Sequence-example-TPMT-one.xml

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

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

<MolecularSequence xmlns="http://hl7.org/fhir">
    <id value="example-TPMT-one"/> 
    <text> <status value="generated"/> <div xmlns="http://www.w3.org/1999/xhtml"><p> <b> Generated Narrative</b> </p> <p> <b> type</b> : dna</p> <p> <b> coordinateSystem</b> : 1</p> <p> <b> patient</b> : <a> Generated Summary: Medical record number: 12345 (USUAL); active; Peter James Chalmers
           (OFFICIAL), Jim , Peter James Windsor (MAIDEN); , Phone: (03) 5555 6473, Phone: (03) 3410
           5613, Phone: (03) 5555 8834; gender: male; birthDate: 1974-12-25; </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> <span> 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> 18139214</td> <td> 18139214</td> <td> A</td> <td> G</td> </tr> </table> <p> <b> observedSeq</b> : T-C-C-C-A-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="18139214"/> 
        <end value="18139214"/> 
        <observedAllele value="A"/> 
        <referenceAllele value="G"/> 
    </variant> 
    <observedSeq value="T-C-C-C-A-C-C-C"/> 
</MolecularSequence>