Release 4


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 a single varaint on a reference MolecularSequence related to a haplotype observation in PGx example (id = "example-pgx-1")

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

<MolecularSequence xmlns="">
    <id value="example-pgx-1"/> 
    <text> <status value="generated"/> <div xmlns=""><p> <b> Generated Narrative with Details</b> </p> <p> <b> id</b> : example-pgx-1</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> 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> (Details : { code 'NG_007726.3' = 'NG_007726.3)</span> </td> <td> watson</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> 55227976</td> <td> 55227977</td> <td> G</td> <td> T</td> <td> <a> Target Haplotype Observation</a> </td> </tr> </table> </div> </text> <type value="dna"/> 
    <coordinateSystem value="0"/> 
        <reference value="Patient/example"/> 
        <orientation value="sense"/> 
            <system value=""/> 
            <code value="NG_007726.3"/> 
        <strand value="watson"/> 
        <windowStart value="55227970"/> 
        <windowEnd value="55227980"/> 
        <start value="55227976"/> 
        <end value="55227977"/> 
        <observedAllele value="G"/> 
        <referenceAllele value="T"/> 
          <reference value="Observation/example-haplotype1"/> 
          <display value="Target Haplotype Observation"/> 

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.