Details
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Change Request
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Resolution: Persuasive
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Medium
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Genomics Reporting (FHIR)
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2.0.0
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Clinical Genomics
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Genotype
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(many)
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May Terry/Srikar Chamala : 11 - 0 - 0
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Clarification
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Non-substantive
Description
We currently introduce a grammar to link together star alleles with an HGNC gene symbol, whitespace, and then a slash-delimited list of haplotype codes. Usage of this grammar is remarkably low even within our IG and star alleles are too common to not address more clearly.
We identified a couple easy areas for improvement:
- It would be preferable to move guidance on use of text and/or code systems for haplotype name and genotype name to their corresponding profile pages rather than leave them on "Reporting Overview".
- It may be helpful to note that although some clinical use cases currently rely on star-alleles, sending star-alleles without variant-level information is not best practice as it is both potentially ambiguous and can preclude future utility of the report.