Phenomics Exchange for Research and Diagnostics
0.1.0 - ci-build International flag

Phenomics Exchange for Research and Diagnostics, published by HL7 International / Clinical Interoperability Council. This guide is not an authorized publication; it is the continuous build for version 0.1.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/phenomics-exchange-ig/ and changes regularly. See the Directory of published versions

: HTS Format - TTL Representation

Draft as of 2020-02-14

Raw ttl | Download


@prefix fhir: <http://hl7.org/fhir/> .
@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:CodeSystem ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "HtsFormat"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "http://hl7.org/fhir/StructureDefinition/shareablecodesystem"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/StructureDefinition/shareablecodesystem>     ] )
  ] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p>This case-sensitive code system <code>http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/HtsFormat</code> defines the following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td style=\"white-space:nowrap\">UNKNOWN<a name=\"HtsFormat-UNKNOWN\"> </a></td><td>Unknown</td></tr><tr><td style=\"white-space:nowrap\">SAM<a name=\"HtsFormat-SAM\"> </a></td><td>SAM</td></tr><tr><td style=\"white-space:nowrap\">BAM<a name=\"HtsFormat-BAM\"> </a></td><td>BAM</td></tr><tr><td style=\"white-space:nowrap\">CRAM<a name=\"HtsFormat-CRAM\"> </a></td><td>CRAM</td></tr><tr><td style=\"white-space:nowrap\">VCF<a name=\"HtsFormat-VCF\"> </a></td><td>VCF</td></tr><tr><td style=\"white-space:nowrap\">BCF<a name=\"HtsFormat-BCF\"> </a></td><td>BCF</td></tr><tr><td style=\"white-space:nowrap\">GVCF<a name=\"HtsFormat-GVCF\"> </a></td><td>GVCF</td></tr></table></div>"
  ] ; # 
  fhir:extension ( [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg"^^xsd:anyURI ] ;
fhir:value [ fhir:v "cic" ]
  ] ) ; # 
  fhir:url [ fhir:v "http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/HtsFormat"^^xsd:anyURI] ; # 
  fhir:version [ fhir:v "0.1.0"] ; # 
  fhir:name [ fhir:v "HtsFormat"] ; # 
  fhir:title [ fhir:v "HTS Format"] ; # 
  fhir:status [ fhir:v "draft"] ; # 
  fhir:experimental [ fhir:v "false"^^xsd:boolean] ; # 
  fhir:date [ fhir:v "2020-02-14T16:13:10+10:00"^^xsd:dateTime] ; # 
  fhir:publisher [ fhir:v "HL7 International / Clinical Interoperability Council"] ; # 
  fhir:contact ( [
fhir:name [ fhir:v "HL7 International / Clinical Interoperability Council" ] ;
    ( fhir:telecom [
fhir:system [ fhir:v "url" ] ;
fhir:value [ fhir:v "http://www.hl7.org/Special/committees/cic" ]     ] [
fhir:system [ fhir:v "email" ] ;
fhir:value [ fhir:v "cic@lists.HL7.org" ]     ] )
  ] ) ; # 
  fhir:description [ fhir:v "An enumeration used to represent different high-throughput sequencing file formats."] ; # 
  fhir:jurisdiction ( [
    ( fhir:coding [
fhir:system [ fhir:v "http://unstats.un.org/unsd/methods/m49/m49.htm"^^xsd:anyURI ] ;
fhir:code [ fhir:v "001" ] ;
fhir:display [ fhir:v "World" ]     ] )
  ] ) ; # 
  fhir:copyright [ fhir:v "[Global Alliance for Genomics and Health](https://www.ga4gh.org)"] ; # 
  fhir:caseSensitive [ fhir:v "true"^^xsd:boolean] ; # 
  fhir:content [ fhir:v "complete"] ; # 
  fhir:count [ fhir:v "7"^^xsd:nonNegativeInteger] ; # 
  fhir:concept ( [
fhir:code [ fhir:v "UNKNOWN" ] ;
fhir:display [ fhir:v "Unknown" ]
  ] [
fhir:code [ fhir:v "SAM" ] ;
fhir:display [ fhir:v "SAM" ]
  ] [
fhir:code [ fhir:v "BAM" ] ;
fhir:display [ fhir:v "BAM" ]
  ] [
fhir:code [ fhir:v "CRAM" ] ;
fhir:display [ fhir:v "CRAM" ]
  ] [
fhir:code [ fhir:v "VCF" ] ;
fhir:display [ fhir:v "VCF" ]
  ] [
fhir:code [ fhir:v "BCF" ] ;
fhir:display [ fhir:v "BCF" ]
  ] [
fhir:code [ fhir:v "GVCF" ] ;
fhir:display [ fhir:v "GVCF" ]
  ] ) . #