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  1. FHIR Specification Feedback
  2. FHIR-19373

Consider support for sending VCF data in Sequence

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    Details

    • Type: Change Request
    • Status: Triaged (View Workflow)
    • Priority: Medium
    • Resolution: Unresolved
    • Specification:
      Genomics Reporting (FHIR)
    • Raised in Version:
      STU3
    • Work Group:
      Clinical Genomics
    • Related Artifact(s):
      MolecularSequence
    • Change Category:
      Enhancement

      Description

      Recent discussions have pushed us to have basic support for sending VCF files. Currently possible via Sequence.repository.url (eg, pointing to a separate Binary resource), but a bit awkward semantically (sequence calling may not have taken place yet, must specify Sequence.coordinateSystem). Other options through Observation and DiagnosticReport are similiarly awkward with the methods provided.

      I recommend we change the semantics to better show this is a current capability and/or add a separate element to directly support this.

      Zulip chat topic: https://chat.fhir.org/#narrow/stream/43-genomics/topic/attaching.20genomic.20files

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            Assignee:
            Unassigned Unassigned
            Reporter:
            gil Gil Alterovitz
            Watchers:
            2 Start watching this issue

              Dates

              Created:
              Updated: