variant examples - 2016-09 core #467

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    • Type: Change Request
    • Resolution: Not Persuasive with Modification
    • Priority: Medium
    • FHIR Core (FHIR)
    • DSTU2
    • Clinical Genomics
    • MolecularSequence (was Sequence)
    • 10.4.6
    • Hide

      Persuasive – add clarification info

      The definition of variant if comes from The sequenceontology.

      Variant can represent some kinds of complex variation with CIGAR string.

      Here's example.

      Show
      Persuasive – add clarification info The definition of variant if comes from The sequenceontology . Variant can represent some kinds of complex variation with CIGAR string. Here's example .
    • David Kreda/Clem McDownload: 25-0-2
    • Clarification
    • Non-substantive
    • DSTU2

      Existing Wording: Definition

      A' is a variant (mutation) of A = definition every instance of A' is either an immediate mutation of some instance of A, or there is a chain of immediate mutation processes linking A' to some instance of A

      Comment:

      The definition is not at all clear. Is this supposed to represent any kind of complex variant? Or just one contiguous chunk that varies? And it is not at all clear why you need that definition in addition to the ref Allele and Alt allele, and the start and stop of the ref Allele. This is in real need of some examples.

      Summary:

      variant examples

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

              Created:
              Updated:
              Resolved: