sequence pointer - 2016-09 core #469

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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 example

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

      Here's example of complex variant.

      And sequence.pointer is used to link relative sequence for genome graph.

      Show
      Persuasive – add example Variant can represent some kinds of complex variation with CIGAR string. Here's example of complex variant. And sequence.pointer is used to link relative sequence for genome graph.
    • David Kreda/Clem McDownload: 25-0-2
    • Clarification
    • Non-substantive
    • DSTU2

      Comment:

      The sequence pointer must relate to the original definition of the variant. So is this a way to represent complex variants? If so, where do you represent the phase and where describe the type of complex variant. Does someone now report things this way for clinical decision support?

      Summary:

      sequence pointer

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

              Created:
              Updated:
              Resolved: