Date post: | 26-Jun-2015 |
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Welcome
Genome-‐in-‐a-‐Bo.le Consor2um Workshop
Clinical Transla2on of Human Genome Sequencing
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
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
Genome-‐in-‐a-‐Bo*le Consor0um to work on these…
Measurement Infrastructure
Reference Materials, Reference Data,
Reference Methods, Performance Metrics
Why a consor2um?
Who does what? • what NIST can/will do
– host and convene • NIST is non-‐regulatory, neutral
broker • NIST can and will commit to
development and dissemina2on of products
– NIST Reference Materials • access interna2onal
community with recognized reference material program
• wide regulatory acceptance
• what members can/will do – at this point, it's easiest for
membership to be voluntary • without requirements for
CRADAs, formal declara2ons of membership
– members may find it useful to par2cipate in the standard seRng work of the consor2um • collabora2on on development
of RMs, data, tools, and documentary standards
Genome-‐in-‐a-‐Bo.le Consor2um
• NIST hosted three small workshops to address Reference Material needs in this space – Stanford, June 2011 – ASHG, Montreal, October 2011
– NIST, Gaithersburg, MD, April 2012
• August 2012 – get feedback on draX work plan, refine
– get working groups underway
– iden2fy resources • materials • sequencing • analysis
Agenda
Thursday 16 August 2012 • Clinical Applica2ons of WGS • WGS Technology Outlook • 2 approaches to Genome
Characteriza2on • 5 minute Topic Talks • NIST work to develop
Whole Genome RMs – in partnership with FDA
• Breakout Groups
Friday 17 August 2012 • Report-‐out from Breakout
Groups • Workplan Refinement • Resources & Next Steps
Genome in a Bo.le Working Groups
Reference Material Selec2on & Design Andrew Grupe, Celera
• Develop priori2zed list of whole human genomes for Reference Materials • Iden2fy candidate approaches and materials for ar2ficial RMs • Develop priori2zed list
Meaurements for Reference Material Characteriza2on Ellio. Margulies, Illumina
• Develop consensus plan for experimental characteriza2on of Reference Materials
Bioninforma2cs, Data Integra2on, and Data Representa2on Steve Sherry, NCBI
• Develop plan for integra2ng experimental data and forming consensus variant calls and confidence es2mates • Develop consensus plan for data representa2on
Performance Metrics & Figures of Merit Jus2n Johnson, EdgeBio
• User interface to the Genome-‐in-‐a-‐Bo.le Reference Material • “Dashboard” • what an end user will see and report to understand and describe the performance of their experiment • variant call accuracy • process performance measures to enable op2miza2on
Map of Admin Building 1st Floor
Logis2cs • Food
– NIST Cafeteria adjacent to this auditorium
• Internet Access – passwords for NIST-Visitor are in your folder
• Transporta2on Ma.ers – please see Angela Ellis or Tia Crawford @ registra2on desk
• This is an open, public mee2ng
• Press may be in a.endance
• There will be an open webinar broadcast of this mee2ng
• Speakers, please ask audience to refrain from twee2ng/blogging if you so desire – otherwise, it’s fair game
GENOME-‐IN-‐A-‐BOTTLE CONSORTIUM WEBINAR
you’re a.ached to the…
Charge to Breakout Groups
Genome in a Bo.le Working Groups
Reference Material Selec2on & Design Andrew Grupe, Celera
• Develop priori2zed list of whole human genomes for Reference Materials • Iden2fy candidate approaches and materials for ar2ficial RMs • Develop priori2zed list
Meaurements for Reference Material Characteriza2on Ellio. Margulies, Illumina
• Develop consensus plan for experimental characteriza2on of Reference Materials
Bioninforma2cs, Data Integra2on, and Data Representa2on Steve Sherry, NCBI
• Develop plan for integra2ng experimental data and forming consensus variant calls and confidence es2mates • Develop consensus plan for data representa2on
Performance Metrics & Figures of Merit Jus2n Johnson, EdgeBio
• User interface to the Genome-‐in-‐a-‐Bo.le Reference Material • “Dashboard” • what an end user will see and report to understand and describe the performance of their experiment • variant call accuracy • process performance measures to enable op2miza2on
Map of Breakouts
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