Inserted text to clarify reporting on sequences - 2018-May Genomics #7

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    • Type: Change Request
    • Resolution: Persuasive
    • Priority: Medium
    • Genomics Reporting (FHIR)
    • STU3
    • Clinical Genomics
    • (profiles) [deprecated]
    • 1.1.1
    • Hide

      Proposed Wording:

      Because DNA, RNA and even amino acid, sequences can be exceptionally long - and are virtually the same for long stretches within a given species - reporting is typically done on the basis of differences between the sequence observed in the tested specimen and the sequence in a reference sequence. Such differences are called variations. They are not usually reported as a complete enumeration of the whole sequence of interest.

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      Proposed Wording: Because DNA, RNA and even amino acid, sequences can be exceptionally long - and are virtually the same for long stretches within a given species - reporting is typically done on the basis of differences between the sequence observed in the tested specimen and the sequence in a reference sequence. Such differences are called variations. They are not usually reported as a complete enumeration of the whole sequence of interest.
    • Bret Heale/Clem McDonald: 18-0-0
    • Enhancement
    • Non-substantive

      Existing Wording: Because DNA, RNA and even amino acid sequences can be exceptionally long - and are typically mostly the same for a given type of organism or protein - reporting is typically done on the basis of variations between the tested specimen and a reference specimen rather than as a complete enumeration of the whole sequence.

      Proposed Wording: Because DNA, RNA and even amino acid, sequences can be exceptionally long - and are virtually the samefor long stretches within a given species - reporting is typically done on the basis of differences between the sequence observed in the tested specimen and the sequence in a reference sequence. Such differences are called variations. They are not usually reported a a complete enumeration of the whole sequence of interest.

      Comment:

      These differences are called variations for the ease of intrepretation by the receiver. Think the word protein may misconstrue - proteomics is a whole different area.

      Summary:

      Inserted text to clarify reporting on sequences

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

              Created:
              Updated:
              Resolved: