11:00 a. m. - 11:10 a. m. | Opening Remarks Dr. Kathryn North & Sir Mark Caulfield |
11:10 a. m. - 11:45 a. m. | 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
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11:45 a. m. - 12:25 p. m. | 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
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12:25 p. m. - 1:00 p. m. | 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
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11:00 a. m. - 11:05 a. m. | Opening Remarks Dr. Kathryn North & Sir Mark Caulfield |
11:05 a. m. - 11:35 a. m. | 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
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11:35 a. m. - 11:55 a. m. | Pharmacogenomics - Initiative Show and Tells
- Estonian Genome Project - Dr. Lili Milani
- Genomics England - Dr. Mark Caulfield
- Discussion
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11:55 a. m. - 12:30 p. m. | End-to-End Standards Implementations - Genomics England - Dr. Augusto Rendon
- Australian Genomics - Dr. Zornitza Stark
- ELIXIR / B1MG - Dr. Astrid Vicente
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12:30 p. m. - 1:00 p. m. | Discussion and Closing Remarks |