Genome in a Bottle Consortium Workshop Welcome Aug. 16
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Genome in a Bottle Consortium Workshop Welcome Aug. 16
- 1. Welcome Genome-‐in-‐a-‐Bo.le Consor2um Workshop
- 2. Clinical Transla2on of Human Genome Sequencing
- 3. Clinical Sequencing? • first, you’ve got to have reliable measurements • next, you need to know how reliable they are • then, you need clinical interpreta2on • in prac2ce, you’ll need infrastructure to enable distributed clinical implementa2on
- 4. Clinical Sequencing? • first, you’ve got to have reliable measurements • next, you need to know how reliable they are • then, you need clinical interpreta2on Genome-‐in-‐a-‐Bo*le Consor0um • in prac2ce, you’ll need infrastructure to to work on these… enable distributed clinical implementa2on
- 5. Measurement Infrastructure Reference Materials, Reference Data, Reference Methods, Performance Metrics
- 7. Who does what? • what NIST can/will do • what members can/will do – host and convene – at this point, it's easiest for • NIST is non-‐regulatory, neutral membership to be voluntary broker • without requirements for • NIST can and will commit to CRADAs, formal declara2ons development and of membership dissemina2on of products – members may find it useful to – NIST Reference Materials par2cipate in the standard • access interna2onal seRng work of the community with recognized consor2um reference material program • collabora2on on development • wide regulatory acceptance of RMs, data, tools, and documentary standards
- 8. Genome-‐in-‐a-‐Bo.le Consor2um • NIST hosted three small • August 2012 workshops to address – get feedback on draX Reference Material work plan, refine needs in this space – get working groups – Stanford, June 2011 underway – ASHG, Montreal, – iden2fy resources October 2011 • materials • sequencing – NIST, Gaithersburg, MD, • analysis April 2012
- 9. Agenda Thursday 16 August 2012 Friday 17 August 2012 • Clinical Applica2ons of WGS • Report-‐out from Breakout • WGS Technology Outlook Groups • 2 approaches to Genome • Workplan Refinement Characteriza2on • Resources & Next Steps • 5 minute Topic Talks • NIST work to develop Whole Genome RMs – in partnership with FDA • Breakout Groups
- 10. Genome in a Bo.le Working Groups Reference Material Meaurements for Bioninforma2cs, Performance Metrics Selec2on Reference Material Data Integra2on, and & Figures of Merit & Design Characteriza2on Data Representa2on Andrew Grupe, Ellio. Margulies, Steve Sherry, NCBI Jus2n Johnson, Celera Illumina EdgeBio • Develop priori2zed list • Develop consensus • Develop plan for • User interface to the of whole human plan for experimental integra2ng Genome-‐in-‐a-‐Bo.le genomes for Reference characteriza2on of experimental data and Reference Material Materials Reference Materials forming consensus • “Dashboard” • Iden2fy candidate variant calls and • what an end user will approaches and confidence es2mates see and report to materials for ar2ficial • Develop consensus understand and RMs plan for data describe the • Develop priori2zed list representa2on performance of their experiment • variant call accuracy • process performance measures to enable op2miza2on
- 11. Map of Admin Building 1st Floor
- 12. Logis2cs • Food • This is an open, public – NIST Cafeteria adjacent to mee2ng this auditorium • Press may be in • Internet Access a.endance – passwords for • There will be an open NIST-Visitor webinar broadcast of this are in your folder mee2ng • Transporta2on Ma.ers – please see Angela Ellis or • Speakers, please ask Tia Crawford @ audience to refrain from registra2on desk twee2ng/blogging if you so desire – otherwise, it’s fair game
- 13. you’re a.ached to the… GENOME-‐IN-‐A-‐BOTTLE CONSORTIUM WEBINAR
- 14. Charge to Breakout Groups
- 15. Genome in a Bo.le Working Groups Reference Material Meaurements for Bioninforma2cs, Performance Metrics Selec2on Reference Material Data Integra2on, and & Figures of Merit & Design Characteriza2on Data Representa2on Andrew Grupe, Ellio. Margulies, Steve Sherry, NCBI Jus2n Johnson, Celera Illumina EdgeBio • Develop priori2zed list • Develop consensus • Develop plan for • User interface to the of whole human plan for experimental integra2ng Genome-‐in-‐a-‐Bo.le genomes for Reference characteriza2on of experimental data and Reference Material Materials Reference Materials forming consensus • “Dashboard” • Iden2fy candidate variant calls and • what an end user will approaches and confidence es2mates see and report to materials for ar2ficial • Develop consensus understand and RMs plan for data describe the • Develop priori2zed list representa2on performance of their experiment • variant call accuracy • process performance measures to enable op2miza2on
- 16. Map of Breakouts
- 17. Some use scenarios… • Obtain metrics for valida2on, QC, QA, PT • Determine sources and types of bias/error • Learn to resolve difficult structural variants • Improve reference genome assembly • Op2miza2on – integra2on of data from mul2ple plagorms – sequencing and analysis • Enable regulated applica2ons