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CG WG Call Notes leading to 2015 May WGM
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