Details
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Change Request
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Resolution: Not Persuasive with Modification
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Medium
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FHIR Core (FHIR)
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STU3
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Clinical Genomics
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Diagnostics Module
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10.9
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Kevin Power / Patrick Werner : 13 - 0 - 0
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Enhancement
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Non-compatible
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R5
Description
Suggest we review dbVar definitions [https://www.ncbi.nlm.nih.gov/dbvar/content/overview/] and tweak the definitions of Sequence.structureVariant fields accordingly. For instance:
- sequence.structureVariant.precision (string): not sure what this is.
- sequence.structureVariant.length: per dbVar, this is not the precise length of the variant but rather "the length of the affected variant... that is known to reside within ... interval, but its breakpoints are not known".
- sequence.structureVariant.inner/outer: clarify that if precise breakpoint is known set inner=outer. If only inner is provided, then assume outer is not known. If only outer is provided, then assume inner is not known.
Submitted by: Bob Dolin (bdolin@elimu.io)