Maintaining Momentum Post-ASHG 2014: Maximizing the Value of Large Genomic Databases

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Maintaining Momentum PostASHG: Maximizing the Value of Large Genomic Databases Hannes Smarason Genome Sequencing |Personalized Medicine | Transforming Health Care

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The Haplotype Reference Consortium (HRC) unveiled at the American Society of Human Genetics (ASHG) 2014 aims to become the world’s most comprehensive database of genetic variations. The newly launched NextCODE Exchange will provide a browser-based hub for multi-center sharing and collaboration on collective genomic data from massive whole-genome databases like the HRC to accelerate research worldwide.

Transcript of Maintaining Momentum Post-ASHG 2014: Maximizing the Value of Large Genomic Databases

Page 1: Maintaining Momentum Post-ASHG 2014: Maximizing the Value of Large Genomic Databases

Maintaining  Momentum  Post-­‐ASHG:    Maximizing  the  Value  of  Large  Genomic  Databases  

Hannes  Smarason    Genome  Sequencing  |Personalized  Medicine  |  Transforming  Health  Care  

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Great  momentum  from  ASHG  2014    The  American  Society  of  Human  Gene=cs  (ASHG)  mee=ng  convened  this  week  in  San  Diego,  bringing  together  gene=cs  experts  from  around  the  world  to  discuss  programs  with  great  poten=al  to  advance  genomic-­‐based  medicine  in  the  years  to  come.  

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Great  momentum  from  ASHG  2014  To  maintain  the  momentum  generated  this  week,  we  need  to  find  ways  to  integrate  these  important  ideas,  insights  and  programs,  and  to  maximize  the  use  of  the  massive  databases  that  have  been  launched  to  support  research  on  cancer,  rare  diseases  and  other  pressing  health  topics.  

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Promise  of  Large  Databases  

•  One  of  the  databases  unveiled  during  the  mee=ng  was  the  Haplotype  Reference  Consor=um,  which  aims  to  become  the  world’s  most  comprehensive  database  of  gene=c  varia=ons.    

•  Large  databases  like  the  HRC,  along  with  several  others  already  underway,  can  be  tremendously  helpful  to  researchers  finding  answers  to  some  of  the  most  challenging  diseases.  But  there  remains  a  significant  boQleneck:  these  large,  cumbersome  databases  cannot  easily  be  shared  and  manipulated,  limi=ng  their  u=lity  for  broad,  mul=-­‐center  genomic  research.    

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SoluEon:    The  NextCODE  Exchange    •  The  solu=on  lies  in  the  newly  launched  NextCODE  Exchange  

(see  release  here).  This  browser-­‐based  hub  allows  for  the  sharing  and  harmonizing  of  massive  whole-­‐genome  databases  like  the  HRC  to  accelerate  research.  The  integrated  architecture  allows  users  to  visually  confirm  and  validate  findings  in  raw  sequences,  collabora=ng  and  sharing  with  others  around  the  world  who  may  have  complementary  research  underway.  

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The  momentum  generated  during  ASHG  will  be  mul=plied  by  sharing  and  learning  from  the  world’s  collec=ve  genomic  data  on  the  NextCODE  Exchange.      Read  more  about  NextCODE’s  work  here.  

ExciEng  Times  Ahead