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    • Type: Change Request
    • Resolution: Persuasive with Modification
    • Priority: Medium
    • Genomics Reporting (FHIR)
    • STU3
    • Clinical Genomics
    • (profiles) [deprecated]
    • 1.3
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      Persuasive with Mod:

      Proposal: Text to add after the first paragraph:

      The core of the typical report is a list of identified variants - each with many possible attributes which appear in figure 1 below. The Described Variant can be a simple variant (small contiguous DNA changes), a deletion, or a duplication. The Complex Variant consists of a set of Described Variants grouped together that have a specified clinical effect or phenotype.

      An individual variant may be defined and described by multiple attributes delivered as component values, most of which are optional. We encourage the sending system to send as many of these attributes as possible in order to support a wider variety of use cases. Clinicians are accustomed to receiving descriptive information such as the HVGS genomic and amino acid expression, the type of variant (e.g. deletion) and the reference sequence. The identifiers to the online databases can be more easily consumed by CDS systems.

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      Persuasive with Mod: Proposal: Text to add after the first paragraph: The core of the typical report is a list of identified variants - each with many possible attributes which appear in figure 1 below. The Described Variant can be a simple variant (small contiguous DNA changes), a deletion, or a duplication. The Complex Variant consists of a set of Described Variants grouped together that have a specified clinical effect or phenotype. An individual variant may be defined and described by multiple attributes delivered as component values, most of which are optional. We encourage the sending system to send as many of these attributes as possible in order to support a wider variety of use cases. Clinicians are accustomed to receiving descriptive information such as the HVGS genomic and amino acid expression, the type of variant (e.g. deletion) and the reference sequence. The identifiers to the online databases can be more easily consumed by CDS systems.
    • Bob D / Patrick: 17-0-0
    • Enhancement
    • Non-substantive

      Existing Wording: General comments on 1.3 Sequenced Variants

      Comment:

      See Word Doc: 2018 05 07 McDonald ? ballotcomments_FHIR_IG_CG_R1_D1_2018MAY ? BALLOT COMMENT #25

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

              Created:
              Updated:
              Resolved: