Molecular Definition Implementation Guide for Molecular Data Types
1.0.0-ballot1 - ci-build International flag

Molecular Definition Implementation Guide for Molecular Data Types, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 1.0.0-ballot1 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/molecular-definition-data-types/ and changes regularly. See the Directory of published versions

: Normalization Method - JSON Representation

Page standards status: Draft Maturity Level: 0

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{
  "resourceType" : "CodeSystem",
  "id" : "normalization-method",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: CodeSystem normalization-method</b></p><a name=\"normalization-method\"> </a><a name=\"hcnormalization-method\"> </a><p>This case-sensitive code system <code>http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/normalization-method</code> defines the following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td><td><b>Definition</b></td></tr><tr><td style=\"white-space:nowrap\">left-shift<a name=\"normalization-method-left-shift\"> </a></td><td>Left shift</td><td>Variant coordinates normalized by shifting bases to the left, as per VCF specifications</td></tr><tr><td style=\"white-space:nowrap\">right-shift<a name=\"normalization-method-right-shift\"> </a></td><td>Right shift</td><td>Variant coordinates normalized by shifting bases to the right, as per HGVS specifications</td></tr><tr><td style=\"white-space:nowrap\">fully-justified<a name=\"normalization-method-fully-justified\"> </a></td><td>Fully justified</td><td>Variant coordinates normalized by full justification, as per VOCA specifications</td></tr></table></div>"
  },
  "extension" : [
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
      "valueCode" : "cg"
    },
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm",
      "valueInteger" : 0,
      "_valueInteger" : {
        "extension" : [
          {
            "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom",
            "valueCanonical" : "http://hl7.org/fhir/uv/molecular-definition-data-types/ImplementationGuide/hl7.fhir.uv.molecular-definition-data-types"
          }
        ]
      }
    },
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status",
      "valueCode" : "draft",
      "_valueCode" : {
        "extension" : [
          {
            "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom",
            "valueCanonical" : "http://hl7.org/fhir/uv/molecular-definition-data-types/ImplementationGuide/hl7.fhir.uv.molecular-definition-data-types"
          }
        ]
      }
    }
  ],
  "url" : "http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/normalization-method",
  "version" : "1.0.0-ballot1",
  "name" : "NormalizationMethod",
  "title" : "Normalization Method",
  "status" : "draft",
  "experimental" : false,
  "date" : "2025-09-05T20:30:49+00:00",
  "publisher" : "HL7 International / Clinical Genomics",
  "contact" : [
    {
      "name" : "HL7 International / Clinical Genomics",
      "telecom" : [
        {
          "system" : "url",
          "value" : "http://www.hl7.org/Special/committees/clingenomics"
        },
        {
          "system" : "email",
          "value" : "cg@lists.HL7.org"
        }
      ]
    }
  ],
  "description" : "Methods for normalizing sequence variants",
  "jurisdiction" : [
    {
      "coding" : [
        {
          "system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
          "code" : "001",
          "display" : "World"
        }
      ]
    }
  ],
  "caseSensitive" : true,
  "content" : "complete",
  "count" : 3,
  "concept" : [
    {
      "code" : "left-shift",
      "display" : "Left shift",
      "definition" : "Variant coordinates normalized by shifting bases to the left, as per VCF specifications"
    },
    {
      "code" : "right-shift",
      "display" : "Right shift",
      "definition" : "Variant coordinates normalized by shifting bases to the right, as per HGVS specifications"
    },
    {
      "code" : "fully-justified",
      "display" : "Fully justified",
      "definition" : "Variant coordinates normalized by full justification, as per VOCA specifications"
    }
  ]
}