Sequence-genetics-example3.xml

Example for RNA sequence variant and expression (id = "seq3")

<Sequence xmlns="http://hl7.org/fhir">
    <id value="seq3"/>
    <text><status value="generated"/><div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative with Details</b></p><p><b>id</b>: seq3</p><p><b>type</b>: RNA</p><p><b>variationID</b>: rs58238562 <span>(Details : {http://www.ncbi.nlm.nih.gov/projects/SNP code '58238562' = '??)</span></p><p><b>referenceSeq</b>: Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA <span>(Details : {http://www.ncbi.nlm.nih.gov/nuccore/ code 'NM_000927.4' = '??', given as 'Homo
           sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA'})</span></p><p><b>quantity</b>: 23 Transcripts per million(TPM)</p><p><b>species</b>: Homo sapiens <span>(Details : {SNOMED CT code '337915000' = '??)</span></p></div></text><type value="RNA"/>
    <variationID>
        <coding>
            <system value="http://www.ncbi.nlm.nih.gov/projects/SNP"/>
            <code value="58238562"/>
        </coding>
        <text value="rs58238562"/>
    </variationID>
    <referenceSeq>
        <coding>
            <system value="http://www.ncbi.nlm.nih.gov/nuccore/"/>
            <code value="NM_000927.4"/>
            <display value="Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA"/>
        </coding>
    </referenceSeq>
    <quantity>
        <value value="23"/>
        <unit value="Transcripts per million(TPM)"/>
    </quantity>
    <species>
        <coding>
            <system value="http://snomed.info/sct"/>
            <code value="337915000"/>
        </coding>
        <text value="Homo sapiens"/>
    </species>
</Sequence>