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  1. FHIR Specification Feedback
  2. FHIR-36047

Technical correction for clarity on DNA change type and Molecular consequence components

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    • Icon: Technical Correction Technical Correction
    • Resolution: Persuasive
    • Icon: Medium Medium
    • Genomics Reporting (FHIR)
    • current
    • Clinical Genomics
    • Molecular Consequence VS [deprecated]
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      In Variant http://build.fhir.org/ig/HL7/genomics-reporting/StructureDefinition-variant.html

      1) constrain the value set further for Molecular consequence component to reflect the current definition using SO:0001580 which is a descendent of the current parent term of the value set. OR change the definition to be
      'calculated classification of the effect of the gene's sequence change'

      2) for clarity move the component for DNA change type after molecular consequence.

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      In Variant  http://build.fhir.org/ig/HL7/genomics-reporting/StructureDefinition-variant.html 1) constrain the value set further for Molecular consequence component to reflect the current definition using SO:0001580 which is a descendent of the current parent term of the value set. OR change the definition to be 'calculated classification of the effect of the gene's sequence change' 2) for clarity move the component for DNA change type after molecular consequence.
    • Correction

    Description

      In Variant http://build.fhir.org/ig/HL7/genomics-reporting/StructureDefinition-variant.html

      1) constrain the value set further for Molecular consequence component to reflect the current definition using SO:0001580 which is a descendent of the current parent term of the value set. OR change the definition to be
      'calculated classification of the effect of the gene's sequence change'

      2) for clarity move the component for DNA change type after molecular consequence.

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            Unassigned Unassigned
            bheale Bret Heale
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              Updated:
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