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  1. FHIR Specification Feedback
  2. FHIR-27137

Clarify the representation of wild type in variant profile

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    • Icon: Change Request Change Request
    • Resolution: Persuasive with Modification
    • Icon: Medium Medium
    • Genomics Reporting (FHIR)
    • 1.0 [deprecated]
    • Clinical Genomics
    • Variant
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      Update the content of http://build.fhir.org/ig/HL7/genomics-reporting/sequencing.html with streamlined text on intended scope of Variant and use of components informed from the IM work (preview on https://build.fhir.org/ig/HL7/genomics-reporting/branches/variant-component-groups/sequencing.html) and remove outdated section at bottom of variant page. Update examples to be consistent with this guidance.

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      Update the content of http://build.fhir.org/ig/HL7/genomics-reporting/sequencing.html  with streamlined text on intended scope of Variant and use of components informed from the IM work (preview on  https://build.fhir.org/ig/HL7/genomics-reporting/branches/variant-component-groups/sequencing.html ) and remove outdated section at bottom of variant page. Update examples to be consistent with this guidance.
    • Arthur Herman / Dan Rutz : 12 - 0 - 0
    • Clarification
    • Non-substantive

    Description

      At May 2020 connectathon, we've seen multiple ways that folks are representing wildtypes in the variant profile. Would be good to provide some guidance. 

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            Unassigned Unassigned
            bob.dolin Bob Dolin
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              Updated:
              Resolved: