Details
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Change Request
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Resolution: Persuasive with Modification
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Highest
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Genomics Reporting (FHIR)
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3.0.0-ballot
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Clinical Genomics
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Genomic Study Analysis
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Bob D / Kevin P : 9 - 0 - 0
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Enhancement
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Compatible, substantive
Description
When attempting to parse a referenced VCF file, it might be possible for GenomicStudyAnalysis to contain sufficient metadata to enable a safe parse. In particular, we use genomic source class (e.g. does the VCF file contain only germline variants, only somatic variants, or a mix) and VCF sample column (e.g. in a multi-sample VCF such as a tumor-normal VCF, which sample column in the VCF contains the patient variants) when converting VCF to FHIR.
While it might make sense to add a genomicSourceClass metadata field, it may also be that we need a flexible key-value mechanism that allows a lab to include test specific parameters.
Attachments
Issue Links
- is voted on by
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BALLOT-58189 Affirmative - Bob Dolin : 2024-Jan-FHIR IG CG E3 STU
- Balloted