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  1. FHIR Specification Feedback
  2. FHIR-40320

Create a Molecular Consequences profile

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    • Icon: Change Request Change Request
    • Resolution: Persuasive
    • Icon: Medium Medium

      This proposal seeks to enhance the representation of molecular consequences through the creation of a new Molecular Consequences observation profile, derived from the GenomicImplication profile. 

      A given variant can have multiple transcript-specific predicted molecular consequences. Clinical applications such as rare disease variant discovery, clinical trial matching, and the determination of therapeutic options for cancer patients may need to examine multiple predicted consequences as part of decision making. 

      A high level google doc of the proposal is here.

      An IG branch reflecting the proposal is here.

       

            Unassigned Unassigned
            bob.dolin Bob Dolin
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