genetic variation resource (rename sequence variation resource) - 2016-09 core #460

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    • Type: Change Request
    • Resolution: Persuasive
    • Priority: Medium
    • FHIR Core (FHIR)
    • DSTU2
    • Clinical Genomics
    • MolecularSequence (was Sequence)
    • 10.4
    • Hide

      Persuasive --Change the description on the website.

      It's a typo that sequence can only have one variant.

      We will fix this mistake.

      Show
      Persuasive --Change the description on the website. It's a typo that sequence can only have one variant. We will fix this mistake.
    • David Kreda/Clem McDownload: 25-0-2
    • Clarification
    • Non-substantive
    • DSTU2

      Existing Wording: 10.4.1 - The Sequence resource is designed to describe an atomic sequence which contains more than one bases but has at most one variation.

      10.4.1.1 - This resource is designed to describe a sequence variation with clinical significance with information

      Proposed Wording: 10.4.1 - The Genetic Variation resource is designed to describe an atomic sequence which contains more than one bases but has at most one variation.

      10.4.1.1 - This resource is designed to describe a genetic variation with clinical significance with information

      Comment:

      I have long argued that this is a badly named resource.

      Regarding the description of atomic sequences "[containing] more than one bases but has at most one variation.- I dont understand what more than one bases means - does it refer to one base pair or nucleotide bases (which would make sense)?

      Then if it has only one variation, why is the name a sequence rather than a variation?

      It goes on to say This resource is designed to describe a sequence variation. Why not call a spade a spade?

      Furthermore, even though I am on this committee and I know the name well, when I saw Sequence among a host of other things, and near scheduling, what came to mind was a sequence of steps in a work flow.

      Summary:

      genetic variation resource (rename sequence variation resource)

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

              Created:
              Updated:
              Resolved: