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Population-Scale Research Efforts Enabled by Progress in Sequencing

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Significant insights gained from population-scale genomic studies will help to enable a new reality of personalized medicine and treatment.

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Population-Scale Research Efforts Enabled by Progress in Sequencing

  1. 1. Popula'on-­‐Scale Research Efforts Enabled by Progress in Sequencing Hannes Smarason Genome Sequencing |Personalized Medicine | Transforming Health Care
  2. 2. The ability to sequence whole genomes quickly and economically is driving interest in popula?on-­‐scale sequencing efforts that can reveal meaningful insights on a much more systema?c basis than previous approaches.
  3. 3. Ini'a'ves Around the World • A range of large ini?a?ves announced recently are prime examples of the trend in popula?on sequencing – Industry programs by Regeneron and Human Longevity – The 100,000 Genomes Project by Genomics England • Perhaps beOer than any other effort since the founding of deCODE gene?cs in Iceland, the establishment of a high-­‐ throughput Genomics Center at Sidra Medical and Research Center in Qatar embodies the movement toward these types of popula?on studies
  4. 4. Popula'on Mapping in Qatar • The eventual project goal: sequence the en?re Qatari popula?on of some 300,000 people • The Sidra facility will help advance gene?c mapping projects – Plans to create an Arab consensus genome to obtain a beOer understanding of gene?c variants that influence health across Arab popula?ons • Center will also focus on uncovering the causes of rare gene?c diseases
  5. 5. Significant Insights to be Gained • The significant insights that can be gained from popula?on-­‐scale studies, based on the knowledge of gene?c varia?on and disease causa?on, will help to enable a new reality of personalized medicine and treatment.
  6. 6. Proper Analysis is Cri'cal • This is where efficient, powerful and industrial-­‐scale analysis will become cri?cal. • NextCODE’s analy?cs and interpreta?on systems have already been tested at such scale, as they are based on the world’s first and largest popula?on genomics effort – that of deCODE.
  7. 7. Our systems will be useful tools to efficiently deliver insights based on the vast amount of data that will be generated by these major popula?on-­‐based efforts to improve the state of global healthcare.

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