Genome in a Bottle Consortium Workshop Welcome Aug. 16

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Genome in a Bottle Consortium Workshop Welcome Aug. 16

  1. 1. Welcome   Genome-­‐in-­‐a-­‐Bo.le    Consor2um  Workshop  
  2. 2. Clinical  Transla2on  of    Human  Genome  Sequencing  
  3. 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. 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. 5. Measurement  Infrastructure   Reference  Materials,     Reference  Data,     Reference  Methods,     Performance  Metrics  
  6. 6. Why  a  consor2um?  
  7. 7. Who  does  what?  •  what  NIST  can/will  do   •  what  members  can/will  do   –  host  and  convene   –  at  this  point,  its  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. 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. 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. 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. 11. Map  of  Admin  Building  1st  Floor  
  12. 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. 13. you’re  a.ached  to  the…  GENOME-­‐IN-­‐A-­‐BOTTLE  CONSORTIUM  WEBINAR  
  14. 14. Charge  to  Breakout  Groups  
  15. 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. 16. Map  of  Breakouts  
  17. 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  

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