Release 5

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Example MolecularSequence/molecularsequence-focus-example (XML)

Clinical Genomics Work GroupMaturity Level: N/AStandards Status: InformativeCompartments: Patient

Raw XML (canonical form + also see XML Format Specification)

Jump past Narrative

Example of focus (the mother was sequenced) versus subject (a child is the patient of record) (id = "molecularsequence-focus-example")

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

<MolecularSequence xmlns="http://hl7.org/fhir">
    <id value="molecularsequence-focus-example"/> 
    <text> <status value="generated"/> <div xmlns="http://www.w3.org/1999/xhtml"><p> <b> Generated Narrative: MolecularSequence</b> <a name="molecularsequence-focus-example"> </a> </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 MolecularSequence &quot;molecularsequence-focus-example&quot; </p> </div> <p> <b> type</b> : dna</p> <p> <b> subject</b> : <a href="broken-link.html">Patient/infant</a> </p> <p> <b> focus</b> : <a href="patient-example-infant-mom.html">Patient/infant-mom</a>  &quot;Leia SOLO&quot;</p> <blockquote> <p> <b> relative</b> </p> <p> <b> coordinateSystem</b> : 0-based interval counting <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="https://loinc.org/">LOINC</a> #LA30100-4)</span> </p> <h3> StartingSequences</h3> <table class="grid"><tr> <td> -</td> <td> <b> Sequence[x]</b> </td> <td> <b> WindowStart</b> </td> <td> <b> WindowEnd</b> </td> </tr> <tr> <td> *</td> <td> NC_000007.14 <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (#NC_000007.14)</span> </td> <td> 87627610</td> <td> 87627635</td> </tr> </table> <h3> Edits</h3> <table class="grid"><tr> <td> -</td> <td> <b> Start</b> </td> <td> <b> End</b> </td> <td> <b> ReplacementSequence</b> </td> <td> <b> ReplacedSequence</b> </td> </tr> <tr> <td> *</td> <td> 87627621</td> <td> 87642522</td> <td> T</td> <td> A</td> </tr> </table> </blockquote> </div> </text> <type value="dna"/> 
    <subject> 
      <reference value="Patient/infant"/> 
    </subject> 
    <focus> 
      <reference value="Patient/infant-mom"/> 
    </focus> 
    <relative> 
        <coordinateSystem> 
            <coding> 
                <system value="http://loinc.org"/> 
                <code value="LA30100-4"/> 
                <display value="0-based interval counting"/> 
            </coding> 
        </coordinateSystem> 
        <startingSequence> 
            <sequenceCodeableConcept> 
                <coding> 
                    <system value="http://www.ncbi.nlm.nih.gov/nuccore/"/> 
                    <code value="NC_000007.14"/> 
                </coding> 
                <text value="NC_000007.14"/> 
            </sequenceCodeableConcept> 
            <windowStart value="87627610"/> 
            <windowEnd value="87627635"/> 
        </startingSequence> 
        <edit> 
            <start value="87627621"/> 
            <end value="87642522"/> 
            <replacementSequence value="T"/> 
            <replacedSequence value="A"/> 
        </edit> 
    </relative> 
</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.