Consider consolidating and using simple NCBI or GHR reference description - 2018-May Genomics #18

XMLWordPrintableJSON

    • Type: Change Request
    • Resolution: Retracted
    • Priority: Medium
    • Genomics Reporting (FHIR)
    • STU3
    • Clinical Genomics
    • (profiles) [deprecated]
    • 1.1.3
    • Hide

      Based on discussion at 2018-Sep WGM, marking at Retracted:

      Retract (treat the comment as if it was never submitted)

      Have logged a new tracker for updates to the background document:

      [#19214]

      Show
      Based on discussion at 2018-Sep WGM, marking at Retracted: Retract (treat the comment as if it was never submitted) Have logged a new tracker for updates to the background document: [#19214]
    • Correction

      Existing Wording: Direct sequencing techniques follow a multistep pathway. The initial phase of a sequencing run produces raw sequence with a qualification of the quality of the raw sequence. The raw sequence is then subject to further computational analysis. In traditional sequencing the product is a single 'read' and the initial step is often the final step. However, in techniques such as next-generation sequencing, the initial step is massively parallel and many 'reads' result. The next phase for massively parallel sequencing techniques is to align the 'reads' to each other and a reference sequence, which acts as a scaffold to aid in assembling 'reads,' in order to create longer, contiguous series of sequences. The next phase for traditional and highly-parallel sequencing techniques is to compare the sequence, or sequence of the assembled 'reads,' to a reference sequence. This comparison produces indientification of variance and quality scores.

      Comment:

      Don't think we should be going so far. Why not just cite a good reference - there are plenty of over view descriptions at NCBI and Genetic Home Reference.

      Summary:

      Consider consolidating and using simple NCBI or GHR reference description

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

              Created:
              Updated:
              Resolved: