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

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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.

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

  1. 1. Maintaining Momentum Post-­‐ASHG: Maximizing the Value of Large Genomic Databases Hannes Smarason Genome Sequencing |Personalized Medicine | Transforming Health Care
  2. 2. 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.
  3. 3. 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.
  4. 4. 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.
  5. 5. 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.
  6. 6. ExciEng Times Ahead 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.

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