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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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(profiles) [deprecated]
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1.1.1
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Bret Heale/Clem McDonald: 18-0-0
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Enhancement
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Non-substantive
Existing Wording: Because DNA, RNA and even amino acid sequences can be exceptionally long - and are typically mostly the same for a given type of organism or protein - reporting is typically done on the basis of variations between the tested specimen and a reference specimen rather than as a complete enumeration of the whole sequence.
Proposed Wording: Because DNA, RNA and even amino acid, sequences can be exceptionally long - and are virtually the samefor long stretches within a given species - reporting is typically done on the basis of differences between the sequence observed in the tested specimen and the sequence in a reference sequence. Such differences are called variations. They are not usually reported a a complete enumeration of the whole sequence of interest.
Comment:
These differences are called variations for the ease of intrepretation by the receiver. Think the word protein may misconstrue - proteomics is a whole different area.
Summary:
Inserted text to clarify reporting on sequences
- is voted on by
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BALLOT-5474 Negative - Clement McDonald : 2018-May-FHIR IG CG R1
- Balloted