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Type:
Change Request
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Resolution: Persuasive
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Priority:
Medium
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FHIR Core (FHIR)
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DSTU2
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Clinical Genomics
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MolecularSequence (was Sequence)
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10.4
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David Kreda/Clem McDownload: 25-0-2
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Clarification
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Non-substantive
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DSTU2
Existing Wording: 10.4.1 - The Sequence resource is designed to describe an atomic sequence which contains more than one bases but has at most one variation.
10.4.1.1 - This resource is designed to describe a sequence variation with clinical significance with information
Proposed Wording: 10.4.1 - The Genetic Variation resource is designed to describe an atomic sequence which contains more than one bases but has at most one variation.
10.4.1.1 - This resource is designed to describe a genetic variation with clinical significance with information
Comment:
I have long argued that this is a badly named resource.
Regarding the description of atomic sequences "[containing] more than one bases but has at most one variation.- I dont understand what more than one bases means - does it refer to one base pair or nucleotide bases (which would make sense)?
Then if it has only one variation, why is the name a sequence rather than a variation?
It goes on to say This resource is designed to describe a sequence variation. Why not call a spade a spade?
Furthermore, even though I am on this committee and I know the name well, when I saw Sequence among a host of other things, and near scheduling, what came to mind was a sequence of steps in a work flow.
Summary:
genetic variation resource (rename sequence variation resource)
- is voted on by
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BALLOT-3094 Negative - Clement McDonald : 2018-Sep-FHIR R1
- Balloted