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    • Type: Change Request
    • Resolution: Persuasive
    • Priority: Medium

      The Genomics Reporting IG currently has Haplotype Observation derivedFrom(mustsupport-derivations) include reference(Cytogenetic Nomenclature | Complex variation | Described Variant). I would like to add Haplotype to this to allow reporting of a Haplotype of Haplotypes. The use case is an HLA genotyping where at times it's necessary to not only report an HLA allele, which would be reported as a Haplotype Observation, (which is what the PGx is using, and I want to be consistent with other use cases), but also a Haplotype of HLA alleles from different genes, e.g., HLA-A*24:03:01:01~HLA-B*08:01:01:01. I can report each allele, e.g., HLA-A*24:03:01:01, as a named Haplotype, but now need to report the Haplotype of these named Haplotypes.

      for background, the term 'Haplotype' used in the Histocompatibilty and Immunogentics community to describe gene-level alleles that are found on the same DNA molecule. It would be very confusing to them if we weren't able to use the Haplotype Observation for this purpose.

            Panel: location:atl.jira.view.issue.left.context

              Assignee:
              Unassigned
              Reporter:
              Bob Milius
              Bob Milius
              Watchers:
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                Created:
                Updated:
                Resolved:

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