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Type:
Change Request
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Resolution: Not Persuasive with Modification
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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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10.4.6
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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
Comment:
What is the difference between this and the sequence variant observed allele (Sequence.variant.observedAllele)?
It also emphasizes the point that a variant is a function of two sequences - the sample (patient) sequence and the reference (normal) sequence but a variant is NOT just a sequence.
Many of the quality measures and especially the read coverages provide information that goes well beyond the variant it must relate to the sequence that was examined usually in a long sequencing study. Think there are at least 4 ranges described for the coverage to apply. Really need to tie coverage down.
The sequence variant repository items are confusing -
It describes many things. You can report many repositories. One would likely be the Refseq repository, another the variant ID in some pubic repository. But do not see any way to know which is which, or whether that was the intention. Or is this just intended to represent the variant found in more then one repository?
I have been digging through various public repositories and had not come across the read ID. Is it the accession code or something more specific?
Summary:
Ability to allow multiple values in one observation value
- is voted on by
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BALLOT-3102 Negative - Clement McDonald : 2018-Sep-FHIR R1
- Balloted