<subject> <reference value="Patient/denovoChild"/> </subject> <specimen> <reference value="Specimen/denovo-1"/> </specimen> <date value="2021-01-01T01:01:10-06:00"/>  <note> <text value="This is a next generation sequencing analysis of a proband."/> </note>   <input>  <file> <reference value="DocumentReference/genomicFile1"/> </file> <type> <coding> <code value="vcf"/> <display value="VCF"/> </coding> </type>  </input> <performer>  <actor> <reference value="Practitioner/practitioner02"/> </actor> <role> <coding> <system value="http://terminology.hl7.org/3.1.0/CodeSystem-v3-ParticipationType.html"/> <code value="PRF"/> <display value="Performer"/> </coding> </role> </performer> <device>  <device> <reference value="Device/NGS-device"/> </device> <function> <coding> <display value="Next Generation Sequencing"/> </coding> </function> </device> </analysis> <analysis>  <identifier> <use value="temp"/> <system value="http://www.somesystemabc.net/identifiers/genomicAnalyses"/> <value value="urn:uuid:1111-1111-1111-1112"/> </identifier>  <instantiatesUri value="https://pubmed.ncbi.nlm.nih.gov/33927380/"/> <title value="Maternal Sequence Variation Detection Using Next Generation Sequencing"/>  <subject> <reference value="Patient/denovoMother"/> </subject> <specimen> <reference value="Specimen/denovo-2"/> </specimen> <date value="2021-01-01T01:01:10-06:00"/>  <note> <text value="This is a next generation sequencing analysis of a mother of a proband."/> </note> <input>  <file> <reference value="DocumentReference/genomicFile2"/> </file> <type> <coding> <code value="vcf"/> <display value="VCF"/> </coding> </type>  </input> <performer>  <actor> <reference value="Practitioner/practitioner02"/> </actor> <role> <coding> <system value="http://terminology.hl7.org/3.1.0/CodeSystem-v3-ParticipationType.html"/> <code value="PRF"/> <display value="Performer"/> </coding> </role> </performer> <device>  <device> <reference value="Device/NGS-device"/> </device>  </device> </analysis> <analysis>  <identifier> <use value="temp"/> <system value="http://www.somesystemabc.net/identifiers/genomicAnalyses"/> <value value="urn:uuid:1111-1111-1111-1113"/> </identifier>  <instantiatesUri value="https://pubmed.ncbi.nlm.nih.gov/33927380/"/> <title value="Paternal Sequence Variation Detection Using Next Generation Sequencing"/> <subject> <reference value="Patient/denovoFather"/> </subject> <specimen> <reference value="Specimen/denovo-3"/> </specimen> <date value="2021-01-01T01:01:10-06:00"/>  <note> <text value="This is a next generation sequencing analysis of a father of a proband."/> </note> <input>  <file> <reference value="DocumentReference/genomicFile3"/> </file> <type> <coding> <code value="vcf"/> <display value="VCF"/> </coding> </type>  </input> <performer>  <actor> <reference value="Practitioner/practitioner02"/> </actor> <role> <coding> <system value="http://terminology.hl7.org/3.1.0/CodeSystem-v3-ParticipationType.html"/> <code value="PRF"/> <display value="Performer"/> </coding> </role> </performer> <device>  <device> <reference value="Device/NGS-device"/> </device>  </device> </analysis> <analysis>  <identifier> <use value="temp"/> <system value="http://www.somesystemabc.net/identifiers/genomicAnalyses"/> <value value="urn:uuid:1111-1111-1111-1114"/> </identifier>  <instantiatesUri value="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6885382/"/> <title value="De Novo Mutation Detection and Interpretation"/> <subject> <reference value="Patient/denovoChild"/> </subject>  <date value="2021-01-01T03:01:10-06:00"/>  <note> <text value="This is a next generation sequencing analysis of the comparison analysis of proband and parents sequences."/> </note> <input>  <file> <reference value="DocumentReference/genomicFile1"/> </file> <type> <coding> <code value="vcf"/> <display value="VCF"/> </coding> </type>  </input> <input>  <file> <reference value="DocumentReference/genomicFile2"/> </file> <type> <coding> <code value="vcf"/> <display value="VCF"/> </coding> </type>  </input> <input>  <file> <reference value="DocumentReference/genomicFile3"/> </file> <type> <coding> <code value="vcf"/> <display value="VCF"/> </coding> </type>  </input> <performer>  <actor> <reference value="Practitioner/practitioner02"/> </actor> <role> <coding> <system value="http://terminology.hl7.org/3.1.0/CodeSystem-v3-ParticipationType.html"/> <code value="PRF"/> <display value="Performer"/> </coding> </role> </performer> <device>  <device> <reference value="Device/Triodenovo-SW"/> </device>  </device> </analysis> </GenomicStudy>

This is a genomic study that involves a de novo mutation analysis of a proband, mother, and father. The analysis involves the use use of NGS device and a specilized analysis platform.


    
        
            
            
            
        
    
    
        
    
    
        
    
    
    
        
    
    
        
    
    
        
    
    
        
            
                
                
                
            
        
    
    
        
    
    
        
        
            
            
            
        
          
        
        
        <subject>
            <reference value="Patient/denovoChild"/>
        </subject>
        <specimen>
            <reference value="Specimen/denovo-1"/>
        </specimen>
        <date value="2021-01-01T01:01:10-06:00"/>  <!--  0..1 The date of the analysis event  -->
        <note>
            <text value="This is a next generation sequencing analysis of a proband."/>
        </note>
          <!--  <protocolPerformed>0..1 Reference(Procedure|Task) The protocol that was performed for the analysis event</protocolPerformed>  -->
          <!--  <regionsCalled>0..1 Reference(DocumentReference) Genomic regions actually called in the analysis event (BED file)</regionsCalled>  -->
        <input>    <!--  0..* Inputs for the analysis event of Child -->
            <file>
                <reference value="DocumentReference/genomicFile1"/>
            </file>
            <type>
                <coding>
                    <code value="vcf"/>
                    <display value="VCF"/>
                 </coding>
            </type>
              <!--  <generatedBy[x]>0..1 Identifier|Reference(GenomicStudy) The analysis event or other GenomicStudy that generated this input file</generatedBy[x]>  -->
        </input>
        <performer>    <!--  0..* Performer for the analysis event  -->
            <actor>
                <reference value="Practitioner/practitioner02"/>
            </actor>
            <role>
                <coding>
                    <system value="http://terminology.hl7.org/3.1.0/CodeSystem-v3-ParticipationType.html"/>
                    <code value="PRF"/>
                    <display value="Performer"/>
                </coding>
            </role>
        </performer>
        <device>    <!--  0..* Devices used for the analysis (e.g., instruments, software), with settings and parameters  -->
            <device>
                <reference value="Device/NGS-device"/>
            </device>
            <function>
                <coding>
                    <display value="Next Generation Sequencing"/>
                </coding>
            </function>
        </device>
    </analysis>
    <analysis>    <!--  0..* Genomic Analysis Event of mother  -->
        <identifier>
            <use value="temp"/>
            <system value="http://www.somesystemabc.net/identifiers/genomicAnalyses"/>
            <value value="urn:uuid:1111-1111-1111-1112"/>
        </identifier>
          <!--  <instantiatesCanonical>0..1 canonical(PlanDefinition) The defined protocol that describes the analysis</instantiatesCanonical>  -->
        <instantiatesUri value="https://pubmed.ncbi.nlm.nih.gov/33927380/"/>
        <title value="Maternal Sequence Variation Detection Using Next Generation Sequencing"/>  <!--  0..1 Name of the analysis event (human friendly)  -->
        <subject>
            <reference value="Patient/denovoMother"/>
        </subject>
        <specimen>
            <reference value="Specimen/denovo-2"/>
        </specimen>
        <date value="2021-01-01T01:01:10-06:00"/>  <!--  0..1 The date of the analysis event  -->
        <note>
            <text value="This is a next generation sequencing analysis of a mother of a proband."/>
        </note>
        <input>    <!--  0..* Inputs for the analysis event of Mother -->
            <file>
                <reference value="DocumentReference/genomicFile2"/>
            </file>
            <type>
                <coding>
                    <code value="vcf"/>
                    <display value="VCF"/>
                 </coding>
            </type>
              <!--  <generatedBy[x]>0..1 Identifier|Reference(GenomicStudy) The analysis event or other GenomicStudy that generated this input file</generatedBy[x]>  -->
        </input>
        <performer>    <!--  0..* Performer for the analysis event  -->
            <actor>
                <reference value="Practitioner/practitioner02"/>
            </actor>
            <role>
                <coding>
                    <system value="http://terminology.hl7.org/3.1.0/CodeSystem-v3-ParticipationType.html"/>
                    <code value="PRF"/>
                    <display value="Performer"/>
                </coding>
            </role>
        </performer>
        <device>    <!--  0..* Devices used for the analysis (e.g., instruments, software), with settings and parameters  -->
            <device>
                <reference value="Device/NGS-device"/>
            </device>
              <!--  <function>0..1 CodeableConcept Specific function for the device used for the analysis</function>  -->
        </device>
    </analysis>
    <analysis>    <!--  0..* Genomic Analysis Event of father  -->
        <identifier>
            <use value="temp"/>
            <system value="http://www.somesystemabc.net/identifiers/genomicAnalyses"/>
            <value value="urn:uuid:1111-1111-1111-1113"/>
        </identifier>
          <!--  <instantiatesCanonical>0..1 canonical(PlanDefinition) The defined protocol that describes the analysis</instantiatesCanonical>  -->
        <instantiatesUri value="https://pubmed.ncbi.nlm.nih.gov/33927380/"/>
        <title value="Paternal Sequence Variation Detection Using Next Generation Sequencing"/>
        <subject>
            <reference value="Patient/denovoFather"/>
        </subject>
        <specimen>
            <reference value="Specimen/denovo-3"/>
        </specimen>
        <date value="2021-01-01T01:01:10-06:00"/>  <!--  0..1 The date of the analysis event  -->
        <note>
            <text value="This is a next generation sequencing analysis of a father of a proband."/>
        </note>
          <input>    <!--  0..* Inputs for the analysis event  -->
            <file>
                <reference value="DocumentReference/genomicFile3"/>
            </file>
            <type>
                <coding>
                    <code value="vcf"/>
                    <display value="VCF"/>
                 </coding>
            </type>
              <!--  <generatedBy[x]>0..1 Identifier|Reference(GenomicStudy) The analysis event or other GenomicStudy that generated this input file</generatedBy[x]>  -->
        </input>
        <performer>    <!--  0..* Performer for the analysis event  -->
            <actor>
                <reference value="Practitioner/practitioner02"/>
            </actor>
            <role>
                <coding>
                    <system value="http://terminology.hl7.org/3.1.0/CodeSystem-v3-ParticipationType.html"/>
                    <code value="PRF"/>
                    <display value="Performer"/>
                </coding>
            </role>
        </performer>
        <device>    <!--  0..* Devices used for the analysis (e.g., instruments, software), with settings and parameters  -->
            <device>
                <reference value="Device/NGS-device"/>
            </device>
              <!--  <function>0..1 CodeableConcept Specific function for the device used for the analysis</function>  -->
        </device>
    </analysis>
    <analysis>    <!--  0..* De Novo Mutation Analysis  -->
        <identifier>
            <use value="temp"/>
            <system value="http://www.somesystemabc.net/identifiers/genomicAnalyses"/>
            <value value="urn:uuid:1111-1111-1111-1114"/>
        </identifier>
          <!--  <instantiatesCanonical>0..1 canonical(PlanDefinition) The defined protocol that describes the analysis</instantiatesCanonical>  -->
        <instantiatesUri value="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6885382/"/>
        <title value="De Novo Mutation Detection and Interpretation"/>
        <subject>
            <reference value="Patient/denovoChild"/>
        </subject>
          <!--  <specimen> 0..1 Reference(Specimen) The specimen used in the analysis event</specimen>  -->
        <date value="2021-01-01T03:01:10-06:00"/>  <!--  0..1 The date of the analysis event  -->
        <note>
            <text value="This is a next generation sequencing analysis of the comparison analysis of proband and parents sequences."/>
        </note>
        <input>    <!--  0..* Inputs for the analysis event of Child -->
            <file>
                <reference value="DocumentReference/genomicFile1"/>
            </file>
            <type>
                <coding>
                    <code value="vcf"/>
                    <display value="VCF"/>
                 </coding>
            </type>
              <!--  <generatedBy[x]>0..1 Identifier|Reference(GenomicStudy) The analysis event or other GenomicStudy that generated this input file</generatedBy[x]>  -->
        </input>
        <input>    <!--  0..* Inputs for the analysis event of Mother -->
            <file>
                <reference value="DocumentReference/genomicFile2"/>
            </file>
            <type>
                <coding>
                    <code value="vcf"/>
                    <display value="VCF"/>
                 </coding>
            </type>
              <!--  <generatedBy[x]>0..1 Identifier|Reference(GenomicStudy) The analysis event or other GenomicStudy that generated this input file</generatedBy[x]>  -->
        </input>
        <input>    <!--  0..* Inputs for the analysis event of Father  -->
            <file>
                <reference value="DocumentReference/genomicFile3"/>
            </file>
            <type>
                <coding>
                    <code value="vcf"/>
                    <display value="VCF"/>
                 </coding>
            </type>
              <!--  <generatedBy[x]>0..1 Identifier|Reference(GenomicStudy) The analysis event or other GenomicStudy that generated this input file</generatedBy[x]>  -->
        </input>
        <performer>    <!--  0..* Performer for the analysis event  -->
            <actor>
                <reference value="Practitioner/practitioner02"/>
            </actor>
            <role>
                <coding>
                    <system value="http://terminology.hl7.org/3.1.0/CodeSystem-v3-ParticipationType.html"/>
                    <code value="PRF"/>
                    <display value="Performer"/>
                </coding>
            </role>
        </performer>
        <device>    <!--  0..* Devices used for the analysis (e.g., instruments, software), with settings and parameters  -->
            <device>
                <reference value="Device/Triodenovo-SW"/>
            </device>
              <!--  <function>0..1 CodeableConcept Specific function for the device used for the analysis</function>  -->
        </device>
    </analysis>
</GenomicStudy>