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Type:
Change Request
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Resolution: Persuasive with Modification
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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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(profiles) [deprecated]
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Lloyd/Bob Dolin: 18-0-0
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Enhancement
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Non-compatible
http://www.hl7.org/fhir/2018May/extension-observation-geneticsphaseset.html easily describes how a set of sequences (not necessarily variants) can be grouped according to being in chromosomal phase with one another (cis, on the same molecule). This is useful for my use case.
I don't see how this can be done in the current IG.
allele-phase in described variant doesn't do it as far as I can tell. If it can, I need to see an example.
Calling the phase-set a haplotype of sequences is technically correct, but seems awkward, especially since our domain talks about haplotypes in a whole gene level (eg describing whether two gene level alleles are on the same molecule. Is it possible to describe haplotypes of haplotypes?
In the end, I need to see examples of this.
- is voted on by
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BALLOT-5426 Negative - Bob Milius : 2018-May-FHIR IG CG R1
- Balloted