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Popula'on-­‐Scale 
Research 
Efforts 
Enabled 
by 
Progress 
in 
Sequencing 
Hannes 
Smarason 
Genome 
Sequencing 
|Person...
The 
ability 
to 
sequence 
whole 
genomes 
quickly 
and 
economically 
is 
driving 
interest 
in 
popula?on-­‐scale 
sequ...
Ini'a'ves 
Around 
the 
World 
• A 
range 
of 
large 
ini?a?ves 
announced 
recently 
are 
prime 
examples 
of 
the 
trend...
Popula'on 
Mapping 
in 
Qatar 
• The 
eventual 
project 
goal: 
sequence 
the 
en?re 
Qatari 
popula?on 
of 
some 
300,000...
Significant 
Insights 
to 
be 
Gained 
• The 
significant 
insights 
that 
can 
be 
gained 
from 
popula?on-­‐scale 
studi...
Proper 
Analysis 
is 
Cri'cal 
• This 
is 
where 
efficient, 
powerful 
and 
industrial-­‐scale 
analysis 
will 
become 
c...
Our 
systems 
will 
be 
useful 
tools 
to 
efficiently 
deliver 
insights 
based 
on 
the 
vast 
amount 
of 
data 
that 
w...
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Population-Scale Research Efforts Enabled by Progress in Sequencing

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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