Speaker details to be updated in the coming weeks.

Agenda is shown in Coordinated Universal Time (UTC).

mercredi 23 septembre 2020
11:00 - 11:10
Opening Remarks

Dr. Kathryn North & Sir Mark Caulfield

 
11:10 - 11:45
Curation
  • Gene Curation Coalition (GenCC) & PanelApp - Dr. Marina DiStefano & Dr. Zornitza Stark
  • ClinVar API-based Submission - Dr. Melissa Landrum
  • Initiative Show and Tell
    • BigMed (Norway) - Dr. Morten Eike & Dr. Stephen McAdam
  • Discussion
 
11:45 - 12:25
Consent/Return of Results
  • Regulatory and Ethics Work Stream Presentation 
    • Consent - Kristina Kekesi-Lafrance & Dr. Susan Wallace
    • Return of Results - Dr. Anna Lewis & Dr. Robert Green
  • Initiative Show and Tells
    • Nordic Alliance for Clinical Genomics (NACG) - Dr. Bobbie Ray-Sannerud
    • H3Africa - Dr. Alice Matimba
  • Discussion
 
12:25 - 13:00
Clinical Data Capture and Exchange
  • Clinical and Phenotypic Data Capture Work Stream Presentation: Phenopackets & Pedigree Representation - Dr. David Hansen & Dr. Melissa Haendel
  • Patient Archive Localization - Dr. Kenjiro Kosaki (GEM-Japan)
  • Discussion
 
jeudi 24 septembre 2020
11:00 - 11:05
Opening Remarks

Dr. Kathryn North & Sir Mark Caulfield

 
11:05 - 11:35
Quality Control of Data
  • Initiative Show and Tells
    • Danish National Genome Center - Dr. Kasper Thorsen
    • FinnGen - Dr. Priit Palta
  • Proposal: Quality Control of WGS Results in Population-Scale Initiatives - Dr. Mar Gonzalez-Porta (Singapore NPM)
  • Discussion
 
11:35 - 11:55
Pharmacogenomics
  • Initiative Show and Tells
    • Estonian Genome Project - Dr. Lili Milani
    • Genomics England - Dr. Mark Caulfield
  • Discussion
 
11:55 - 12:30
End-to-End Standards Implementations
  • Genomics England - Dr. Augusto Rendon
  • Australian Genomics - Dr. Zornitza Stark
  • ELIXIR / B1MG - Dr. Astrid Vicente
 
12:30 - 13:00
Discussion and Closing Remarks