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Type:
Change Request
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Resolution: Duplicate
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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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(profiles) [deprecated]
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Enhancement
*Bret Heale: *The Background section states that it has definitions for terms - However, it is common practice in profiles to have definitions for elements. Which terms are considered most basic? I'll take a stab at it when I review the Background section but seems redundant.
The purpose of the background section is to provide a "primer" on relevant concepts and terms in genetics so that someone who is new to this space can understand the terms and purpose of the profiles and profile elements.
Bob M: need clear definitions of complex, simple, discrete, structural variants. The way HLA alleles are described is complex variants according to Clem's definition in the V2 LRI. This should be clear in the IG.
- duplicates
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FHIR-16513 need glossary
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- Published
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