---
type: "example"
title: "GenomicStudy Example: genomicstudy-example"
resource: "GenomicStudy"
example: "genomicstudy-example"
---
# GenomicStudy Example: genomicstudy-example

## Example XML



```xml
<GenomicStudy xmlns="http://hl7.org/fhir">
    <!-- from Resource: id, meta, implicitRules, and language -->
    <id value="example"/>
    <!-- from DomainResource: text, contained, extension, and modifierExtension -->
    <identifier>
        <use value="temp"/>
        <system value="http://www.somesystemabc.net/identifiers/genomicstudies"/>
        <value value="urn:uuid:1111-1111-1111-1111"/>
    </identifier>
    <status value="unknown"/>
    <type>
        <coding>
            <system value="http://hl7.org/fhir/genomicstudy-type"/>
            <code value="fam-var-segr"/>
            <display value="Familial variant segregation"/>
        </coding>
    </type>
    <subject>
        <reference value="Patient/denovoChild"/>
    </subject>
    <encounter>
        <reference value="Encounter/denovoEncounter"/>
    </encounter>
    <startDate value="2021-01-01"/>
    <basedOn>
        <reference value="ServiceRequest/genomicServiceRequest"/>
    </basedOn>
    <referrer>
        <reference value="Practitioner/practitioner01"/>
    </referrer>
    <interpreter>
        <reference value="Practitioner/practitioner02"/>
    </interpreter>
    <reason>
        <concept>
            <coding>
                <system value="http://snomed.info/sct"/>
                <code value="267431006"/>
                <display value="Disorder of lipid metabolism (disorder)"/>
            </coding>
        </concept>
    </reason>
    <note>
        <text value="This de novo mutation is urgent and important for establishing the treatment plan."/>
    </note>
    <description value="De novo mutation study of the patient."/>
    <analysis>  <!-- 0..* Genomic Analysis Event of proband -->
        <identifier>
            <use value="temp"/>
            <system value="http://www.somesystemabc.net/identifiers/genomicAnalyses"/>
            <value value="urn:uuid:1111-1111-1111-1111"/>
        </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="Proband Sequence Variation Detection Using Next Generation Sequencing"/>
        <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) -->
        <focus>
            <reference value="Patient/denovoMother"/>
        </focus>
        <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"/>
        <focus>
            <reference value="Patient/denovoFather"/>
        </focus>
        <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"/>
        <!-- <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>
```