Release 4B

This page is part of the FHIR Specification (v4.3.0: R4B - STU). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions . Page versions: R5 R4B R4 R3

Sequence-example-pgx-2.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 single varaint on a reference MolecularSequence related to a haplotype observation in PGx example, which will form with the other haplotype data to be a diplotype observation. (id = "example-pgx-2")

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

<MolecularSequence xmlns="http://hl7.org/fhir">
    <id value="example-pgx-2"/> 
    <text> <status value="generated"/> <div xmlns="http://www.w3.org/1999/xhtml"><p> <b> Generated Narrative</b> </p> <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">Resource &quot;example-pgx-2&quot; </p> </div> <p> <b> type</b> : dna</p> <p> <b> coordinateSystem</b> : 0</p> <p> <b> patient</b> : <a href="patient-example.html">Patient/example</a>  &quot;Peter CHALMERS&quot;</p> <h3> ReferenceSeqs</h3> <table class="grid"><tr> <td> -</td> <td> <b> Orientation</b> </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> sense</td> <td> NG_007726.3 <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (nuccore#NG_007726.3)</span> </td> <td> watson</td> <td> 55227970</td> <td> 55227980</td> </tr> </table> <h3> Variants</h3> <table class="grid"><tr> <td> -</td> <td> <b> Start</b> </td> <td> <b> End</b> </td> <td> <b> ObservedAllele</b> </td> <td> <b> ReferenceAllele</b> </td> <td> <b> VariantPointer</b> </td> </tr> <tr> <td> *</td> <td> 55227978</td> <td> 55227979</td> <td> G</td> <td> T</td> <td> <a href="observation-example-haplotype2.html">Observation/example-haplotype2: Target Haplotype Observation</a> </td> </tr> </table> </div> </text> <type value="dna"/> 
    <coordinateSystem value="0"/> 
    <patient> 
        <reference value="Patient/example"/> 
    </patient> 
    <referenceSeq> 
        <orientation value="sense"/> 
        <referenceSeqId> 
          <coding> 
            <system value="http://www.ncbi.nlm.nih.gov/nuccore"/> 
            <code value="NG_007726.3"/> 
          </coding> 
        </referenceSeqId> 
        <strand value="watson"/> 
        <windowStart value="55227970"/> 
        <windowEnd value="55227980"/> 
    </referenceSeq> 
    <variant> 
        <start value="55227978"/> 
        <end value="55227979"/> 
        <observedAllele value="G"/> 
        <referenceAllele value="T"/> 
   <variantPointer> 
          <reference value="Observation/example-haplotype2"/> 
          <display value="Target Haplotype Observation"/> 
        </variantPointer> 

    </variant> 
</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.