Ability to allow multiple values in one observation value - 2016-09 core #468

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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

      observedAllele is only related to the sequence in the range between variant.start and variant.end. Sequence.observedseq is related to the sequence in the range of referenceSeq.windonStart and referenceSeq.windowEnd.

      The repository now is for external repository which contains detailed report of observedSeq in this resource .

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      Persuasive – add clarification info observedAllele is only related to the sequence in the range between variant.start and variant.end. Sequence.observedseq is related to the sequence in the range of referenceSeq.windonStart and referenceSeq.windowEnd. The repository now is for external repository which contains detailed report of observedSeq in this resource .
    • David Kreda/Clem McDownload: 25-0-2
    • Clarification
    • Non-substantive
    • DSTU2

      Comment:

      What is the difference between this and the sequence variant observed allele (Sequence.variant.observedAllele)?

      It also emphasizes the point that a variant is a function of two sequences - the sample (patient) sequence and the reference (normal) sequence but a variant is NOT just a sequence.

      Many of the quality measures and especially the read coverages provide information that goes well beyond the variant it must relate to the sequence that was examined usually in a long sequencing study. Think there are at least 4 ranges described for the coverage to apply. Really need to tie coverage down.

      The sequence variant repository items are confusing -

      It describes many things. You can report many repositories. One would likely be the Refseq repository, another the variant ID in some pubic repository. But do not see any way to know which is which, or whether that was the intention. Or is this just intended to represent the variant found in more then one repository?

      I have been digging through various public repositories and had not come across the read ID. Is it the accession code or something more specific?

      Summary:

      Ability to allow multiple values in one observation value

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

              Created:
              Updated:
              Resolved: