Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-cibuild built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

## : FindStudyMetadataOutput - TTL Representation

Raw ttl | Download

    @prefix fhir: <http://hl7.org/fhir/> .
    @prefix loinc: <https://loinc.org/rdf/> .
    @prefix owl: <http://www.w3.org/2002/07/owl#> .
    @prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
    @prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
    @prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

    # - resource -------------------------------------------------------------------

     a fhir:Parameters ;
      fhir:nodeRole fhir:treeRoot ;
      fhir:id [ fhir:v "FindStudyMetadataOutput"] ; #
      fhir:parameter ( [
    fhir:name [ fhir:v "tests" ] ;
        ( fhir:part [
    fhir:name [ fhir:v "testId" ] ;
    fhir:value [
    a fhir:String ;
    fhir:v "test08736abc87"       ]     ] [
    fhir:name [ fhir:v "testDate" ] ;
    fhir:value [
    a fhir:DateTime ;
    fhir:v "2020-07-13"^^xsd:date       ]     ] [
    fhir:name [ fhir:v "specimenId" ] ;
    fhir:value [
    a fhir:String ;
    fhir:v "specimen9652adbg69"       ]     ] [
    fhir:name [ fhir:v "genomicBuild" ] ;
    fhir:value [
    a fhir:CodeableConcept ;
            ( fhir:coding [
    a loinc:LA26806-2 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>           ] ;
    fhir:code [ fhir:v "LA26806-2" ] ;
    fhir:display [ fhir:v "GRCh38" ]         ] )       ]     ] [
    fhir:name [ fhir:v "dnaChangeType" ] ;
    fhir:value [
    a fhir:CodeableConcept ;
            ( fhir:coding [
    fhir:system [
    fhir:v "http://www.sequenceontology.org"^^xsd:anyURI ;
    fhir:l <http://www.sequenceontology.org>           ] ;
    fhir:code [ fhir:v "SO:0001483" ] ;
    fhir:display [ fhir:v "SNV" ]         ] [
    fhir:system [
    fhir:v "http://www.sequenceontology.org"^^xsd:anyURI ;
    fhir:l <http://www.sequenceontology.org>           ] ;
    fhir:code [ fhir:v "SO:0002007" ] ;
    fhir:display [ fhir:v "MNV" ]         ] [
    fhir:system [
    fhir:v "http://www.sequenceontology.org"^^xsd:anyURI ;
    fhir:l <http://www.sequenceontology.org>           ] ;
    fhir:code [ fhir:v "SO:1000032" ] ;
    fhir:display [ fhir:v "delins" ]         ] [
    fhir:system [
    fhir:v "http://www.sequenceontology.org"^^xsd:anyURI ;
    fhir:l <http://www.sequenceontology.org>           ] ;
    fhir:code [ fhir:v "SO:0001019" ] ;
    fhir:display [ fhir:v "copy_number_variation" ]         ] )       ]     ] [
    fhir:name [ fhir:v "regionStudied" ] ;
    fhir:value [
    a fhir:String ;
    fhir:v "['NC_000007.14:55019016-55019365', 'NC_000007.14:55142285-55142437', 'NC_000007.14:55143304-55143488', 'NC_000007.14:55146605-55146740', 'NC_000007.14:55151293-55151362', 'NC_000007.14:55152545-55152664', 'NC_000007.14:55154010-55154152', 'NC_000007.14:55155829-55155946', 'NC_000007.14:55156532-55156659', 'NC_000007.14:55156758-55156832', 'NC_000007.14:55157662-55157753', 'NC_000007.14:55160138-55160338', 'NC_000007.14:55161498-55161631', 'NC_000007.14:55163732-55163823', 'NC_000007.14:55165279-55165437', 'NC_000007.14:55171174-55171213', 'NC_000007.14:55172982-55173124', 'NC_000007.14:55173920-55174043', 'NC_000007.14:55174721-55174820', 'NC_000007.14:55181292-55181478', 'NC_000007.14:55191718-55191874', 'NC_000007.14:55192765-55192841', 'NC_000007.14:55198716-55198863', 'NC_000007.14:55200315-55200413', 'NC_000007.14:55201187-55201355', 'NC_000007.14:55201734-55201782', 'NC_000007.14:55202516-55202625', 'NC_000007.14:55205255-55211628']"       ]     ] [
    fhir:name [ fhir:v "uncallableRegions" ] ;
    fhir:value [
    a fhir:String ;
    fhir:v "['NC_000007.14:55173910-55174053', 'NC_000007.14:55174711-55174830', 'NC_000007.14:55181282-55181488']"       ]     ] )
      ] ) . #