CG WG Call Notes leading to 2015 May WGM

Proposed Agenda

• Ballot reconciliation of the CG DIM 9/2014 ballot

Attendees

• Amnon Shabo (Shvo), Jonathan Holt, Grant Wood, Bob Milius, Perry Mar, Sue Lam, [the seventh participant - could you please add your name?]

Draft Minutes

• Amnon walked through his proposed dispositions & comments to the 9/2014 CG DIM ballot
• discussion was held and votes were recorded
• Perry Mar's comments on the Family Health History DIM were briefly discussed towards the end of the call but not concluded, so it was agreed to continue the discussion at a future call
• a few of the ballot comments on the relation between the DAM and the DIM triggered discussion on the best way forward in this regard
  • Mollie suggested the DAM and the DIM will be balloted separately since they might be developed in different paces
  • Amnon said that it was already decided to merge the two documents, and while the DAM could exist without the DIM, the latter has to have the context that is provided by the DAM
  • a possible way to handle the two documents is to have them reference each other, but that could lead to editorial integrity issues
  • need to continue the DAM/DIM discussion but in any case the DIM will not be balloted in 5/2015
• Porting the DIM to a web-based tool
  • Amnon briefly mentioned the porting of the DIM to a web-based UML editing tool that allows collaborative development of the model (it's available to everybody to view at https://repository.genmymodel.com/amnon.shvo/Clinical-Genomics-DIM)
  • if you're interested to join the editing of the DIM, please drop a message to Amnon

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