Remove Copy Number Change

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    • Type: Change Request
    • Resolution: Persuasive with Modification
    • Priority: Medium
    • Genomics Reporting (FHIR)
    • STU3
    • Clinical Genomics
    • STU
    • (profiles) [deprecated]
    • 1.3
    • Hide

      WGM Jan 2019: Persuasive with Mod

      move arrCGH to Described-Variant

      move chromosome-copy-number-change-type to Described-Variant

      remove Copy-Number-Change

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      WGM Jan 2019: Persuasive with Mod move arrCGH to Described-Variant move chromosome-copy-number-change-type to Described-Variant remove Copy-Number-Change
    • Patrick / Lloyd: 10-0-0
    • Enhancement
    • Non-compatible

      1. 1.3 Variant Reporting, Figure 1: Sequencing Profiles Regarding Copy Number change, I Figure 1 Remove the whole object and all of the child observations some of which should be fixed—and put into what is currently the "Described variant". This comes from a 2014 cytogenetic standard version. It is intended for historical cytogenetics which we are not deliberately covering. Observations that should be moved (when fixed) to what is now called Described variant: • Copy number change types might be specifiable with the change types we already have. • Chromosome band start and end—is either unique to classic cytopathology which we don't support OR could be inferred from the band location described in the described variant • Base pair start and end coordinate (two terms) is redundant with either genomic allele start end (one term) and/or inner start end already in the described variant • Copy number change if needed should go into the described variant (but not sure it is needed) we already have copy number there • ArrCHG ratio could be a property of any discrete variant • RefSeq assembly or build. But the term should be updated. And fixed. Not sure it is needed if the RefSeq includes It does not include 38 • Decide whether the build and assembly might better be stored under common properties—uncommon that one study would be done on different builds. Further, the RefSeq with version number will define this. • RefSeq assembly version - Is that really needed if the RefSeq has a version number the build is implicit? Further, coding system can always have a version number but these short lists are not strictly coding systems. • Will provide further details at meeting.

            Assignee:
            Unassigned
            Reporter:
            clemmcdonald
            Watchers:
            2 Start watching this issue

              Created:
              Updated:
              Resolved: