de novo genetic variations - 2018-May Genomics #63

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    • Type: Change Request
    • Resolution: Persuasive
    • Priority: Medium
    • Genomics Reporting (FHIR)
    • STU3
    • Clinical Genomics
    • (profiles) [deprecated]
    • Scope
    • Hide

      Existing wording:

      Representation of both known/catalogued variants as well as fully describing non-catalogued variations

      Proposed wording:

      Representation of both known variants as well as fully describing de novo variations

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      Existing wording: Representation of both known/catalogued variants as well as fully describing non-catalogued variations Proposed wording: Representation of both known variants as well as fully describing de novo variations
    • Bob M / Clem : 19-0-0
    • Clarification
    • Non-substantive

      Existing Wording: non-catalogued variations

      Comment:

      In past spec developments, we used 'de novo genetic variations', which is more commonly used.

      Summary:

      de novo genetic variations

            Assignee:
            Unassigned
            Reporter:
            Amnon Shabo
            Amnon Shabo
            Watchers:
            2 Start watching this issue

              Created:
              Updated:
              Resolved: