Population-Scale Research Efforts Enabled by Progress in Sequencing
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Transcript of Population-Scale Research Efforts Enabled by Progress in Sequencing
Popula'on-‐Scale Research Efforts Enabled by Progress in Sequencing
Hannes Smarason Genome Sequencing |Personalized Medicine | Transforming Health Care
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.
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
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
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.
• 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.
Proper Analysis is Cri'cal
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.