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 - JSON Representation

Draft as of 2020-02-14

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{
  "resourceType" : "CodeSystem",
  "id" : "HtsFormat",
  "meta" : {
    "profile" : [
      🔗 "http://hl7.org/fhir/StructureDefinition/shareablecodesystem"
    ]
  },
  "text" : {
    "status" : "generated",
    "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>"
  },
  "extension" : [
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
      "valueCode" : "cic"
    }
  ],
  "url" : "http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/HtsFormat",
  "version" : "0.1.0",
  "name" : "HtsFormat",
  "title" : "HTS Format",
  "status" : "draft",
  "experimental" : false,
  "date" : "2020-02-14T16:13:10+10:00",
  "publisher" : "HL7 International / Clinical Interoperability Council",
  "contact" : [
    {
      "name" : "HL7 International / Clinical Interoperability Council",
      "telecom" : [
        {
          "system" : "url",
          "value" : "http://www.hl7.org/Special/committees/cic"
        },
        {
          "system" : "email",
          "value" : "cic@lists.HL7.org"
        }
      ]
    }
  ],
  "description" : "An enumeration used to represent different high-throughput sequencing file formats.",
  "jurisdiction" : [
    {
      "coding" : [
        {
          "system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
          "code" : "001",
          "display" : "World"
        }
      ]
    }
  ],
  "copyright" : "[Global Alliance for Genomics and Health](https://www.ga4gh.org)",
  "caseSensitive" : true,
  "content" : "complete",
  "count" : 7,
  "concept" : [
    {
      "code" : "UNKNOWN",
      "display" : "Unknown"
    },
    {
      "code" : "SAM",
      "display" : "SAM"
    },
    {
      "code" : "BAM",
      "display" : "BAM"
    },
    {
      "code" : "CRAM",
      "display" : "CRAM"
    },
    {
      "code" : "VCF",
      "display" : "VCF"
    },
    {
      "code" : "BCF",
      "display" : "BCF"
    },
    {
      "code" : "GVCF",
      "display" : "GVCF"
    }
  ]
}