Genomics Reporting Implementation Guide
3.0.0 - release International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.0 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

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@prefix fhir: <http://hl7.org/fhir/> .
@prefix loinc: <https://loinc.org/rdf/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@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 [ fhir:v "test08736abc87" ]     ] [
fhir:name [ fhir:v "testDate" ] ;
fhir:value [ fhir:v "2020-07-13"^^xsd:date ]     ] [
fhir:name [ fhir:v "specimenId" ] ;
fhir:value [ 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: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:code [ fhir:v "SO:0001483" ] ;
fhir:display [ fhir:v "SNV" ]         ] [
fhir:system [ fhir:v "http://www.sequenceontology.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "SO:0002007" ] ;
fhir:display [ fhir:v "MNV" ]         ] [
fhir:system [ fhir:v "http://www.sequenceontology.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "SO:1000032" ] ;
fhir:display [ fhir:v "delins" ]         ] [
fhir:system [ fhir:v "http://www.sequenceontology.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "SO:0001019" ] ;
fhir:display [ fhir:v "copy_number_variation" ]         ] )       ]     ] [
fhir:name [ fhir:v "regionStudied" ] ;
fhir:value [ 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 [ fhir:v "['NC_000007.14:55173910-55174053', 'NC_000007.14:55174711-55174830', 'NC_000007.14:55181282-55181488']" ]     ] )
  ] ) . #