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CG WG Call Notes leading to 2015 May WGM

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January 27, 2015 -- Weekly call

Proposed Agenda

  • Briefing on the San Antonio WGM meetings

Attendees

  • Amnon Shabo (Shvo), Jonathan Holt, Grant Wood, Scott Bolte, Bob Milius, Larry Babb, Sue Lam

Draft Minutes

  • Scott briefed on the San Antonio WGM meetings
  • John:
    • Genetic family history: gender vs. sex
    • Modelling "Sequence"
  • Larry: HGVS is not computable and quite ambiguous, and that's why it's important to pursue the "Sequence"modeling effort
  • John: HGVS is actually interpretation and it's hard to get back to the raw data, based on which that HGVS expression was created
  • Bob: rendering for the human viewing is case-specific (e.g., HLA) but the underlying structure should be unambiguous and common to all types of rendering