Comment to disagree that all things examined within range have to be represented in each variant - 2018-May Genomics #24

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    • Type: Change Request
    • Resolution: Persuasive
    • Priority: Medium

      Existing Wording: Figure 1 Box at bottom that describes the things look for including: range-examined (51959-5)

      Comment:

      Disagree with the idea that all of the things looked for have to be represented in each variant. First, there is a way to enumerate each variant and as present or absent in V2, don't know if is carried into FHIR. Regardless, the negatives do not usually apply to a named variant. Those are the things found and by implication positive. The need to know what was looked for only applies to what was not found. Doesn't help to apply that to all of the things that were found (in my opinion). It is a container thing (the whole report). Further, the test name is sometimes all you will get (e.g Exon 5 gene X). The details about actual ranges looked at are often proprietary.

      Summary:

      Comment to disagree that all things examined within range have to be represented in each variant

            Assignee:
            Unassigned
            Reporter:
            clemmcdonald
            Watchers:
            2 Start watching this issue

              Created:
              Updated:
              Resolved: