Sequence-genetics-example-breastcancer.xml

Sequence example for patient with breast cancer gene variant (id = "breastcancer")

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

<Sequence xmlns="http://hl7.org/fhir">
    <id value="breastcancer"/> 
    <text> <status value="generated"/> <div xmlns="http://www.w3.org/1999/xhtml"><p> <b> Generated Narrative with Details</b> </p> <p> <b> id</b> : breastcancer</p> <p> <b> type</b> : rna</p> <p> <b> coordinateSystem</b> : 0</p> <p> <b> patient</b> : <a> Patient/brcapat</a> </p> <h3> ReferenceSeqs</h3> <table> <tr> <td> -</td> <td> <b> ReferenceSeqId</b> </td> <td> <b> WindowStart</b> </td> <td> <b> WindowEnd</b> </td> </tr> <tr> <td> *</td> <td> Homo sapiens BRCA2, DNA repair associated (BRCA2), mRNA <span> (Details : {http://www.ncbi.nlm.nih.gov/nuccore/ code 'NM_000059.3' = 'NM_000059.3', given
               as 'Homo sapiens BRCA2, DNA repair associated (BRCA2), mRNA'})</span> </td> <td> 101488058</td> <td> 101499444</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> 32316186</td> <td> 32316187</td> <td> A</td> <td> C</td> </tr> </table> </div> </text> <type value="rna"/>  
  <coordinateSystem value="0"/> 
  <patient> 
        <reference value="Patient/brcapat"/> 
    </patient> 
  <referenceSeq> 
        <referenceSeqId> 
            <coding> 
                <system value="http://www.ncbi.nlm.nih.gov/nuccore/"/> 
                <code value="NM_000059.3"/> 
                <display value="Homo sapiens BRCA2, DNA repair associated (BRCA2), mRNA"/> 
            </coding> 
        </referenceSeqId> 
    <windowStart value="101488058"/> 
    <windowEnd value="101499444"/> 
    </referenceSeq>       
    <variant> 
    <start value="32316186"/> 
    <end value="32316187"/> 
    <observedAllele value="A"/> 
    <referenceAllele value="C"/> 
  </variant> 
</Sequence>