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Type:
Change Request
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Resolution: Persuasive
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Priority:
Medium
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Genomics Reporting (FHIR)
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STU3
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Clinical Genomics
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STU
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genomics [deprecated]
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2.10.5
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Bob M/Jamie: 8-2-7
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Enhancement
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Non-compatible
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.
- is voted on by
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BALLOT-7199 Negative - Bob Milius : 2019-Jan-FHIR IG CG R1
- Balloted