Sequence-example-pgx-2.xml

Example of another single varaint on a reference Sequence 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")

<Sequence 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 with Details</b></p><p><b>id</b>: example-pgx-2</p><p><b>type</b>: DNA</p><p><b>coordinateSystem</b>: 0</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>NG_007726.3 <span>(Details : {http://www.ncbi.nlm.nih.gov/nuccore code 'NG_007726.3' = 'NG_007726.3)</span></td><td>1</td><td>55227970</td><td>55227980</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><td><b>VariantPointer</b></td></tr><tr><td>*</td><td>55227978</td><td>55227979</td><td>G</td><td>T</td><td><a>Target Haplotype Observation</a></td></tr></table></div></text><type value="DNA"/>
    <coordinateSystem value="0"/>
    <patient>
        <reference value="Patient/example"/>
    </patient>
    <referenceSeq>
        <referenceSeqId>
          <coding>
            <system value="http://www.ncbi.nlm.nih.gov/nuccore"/>
            <code value="NG_007726.3"/>
          </coding>
        </referenceSeqId>
        <strand value="1"/>
        <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>
</Sequence>