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Unlocking the Power of the Genome Karen PossematoChief of Staff, Illumina| 08/25/2016

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3

Technology Has Changed

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Technology Has Changed Our Lives

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Technology Adoption is Accelerating

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● Immune engineering● Precise gene-editing in plants● Conversational interfaces● Reusable rockets

● Robots that teach each other● DNA App Store● Solarcity’s Gigafactory● Slack● Tesla autopilot● Power from the air

Breakthrough Technologies 2016MIT Technology Review

http://www.technologyreview.com/lists/technologies/2016/

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ge·no·micsjēˈnōmiks,-ˈnäm-/noun

The branch of molecular biology concerned with the structure, function, evolution, and mapping of genomes.

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Genome:thecompletesetofgenesorgeneticmaterialpresentinacellororganism

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Thehumangenomeiscomposedof3.2billionletters

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The Genome is the Software Program of Life

11Photo credit:: David Hallet/The Press

Within That Code Is Our “Blueprint”

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Genetic Bugs

Source: Nature Reviews | Genetics

ATTGGCCTTAACCCGATCCGATTATCAGGATATTGGCCTTAACCC CCGATTATCAGGATInsertion-deletion Variant

ATTGGCCTTAACCCCCGATTATCAGGATATTGGCCTTAACAGTGGATTATCAGGATBlock Substitution

ATTGGCCTTAACCCCCGATTATCAGGATATTGGCCTTCGGGGGTTATTATCAGGATInversion Variant

ATTGGCCTTAGGCCTTAACCCCCGATTATCAGGATATTGGCCTTA ACCCCCGATTATCAGGATCopy Number Variant

ATTGGCCTTAACCCCCGATTATCAGGATATTGGCCTTAACCTCCGATTATCAGGATSingle Nucleotide Variant

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Genotyping vs. Sequencing

AGCTACCCTGCATCGATTACGGATCCCAGTAATGCATCGAAGCTACCCTGCATCGATTACGGATCCCAGTAATGCATCGAAGCTACCCTGCATCGATTACGGATCCCAGTAATGCATCG

AGCTACCCTGCATCGATTACGGATCCCAGTAATGCATCGAAGCTACCCTGCATCGATTACGGATCCCAGTAATGCATCGAAGCTACCCTGCATCGATTACGGATCCCAGTAATGCATCG

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Illumina is Unlocking the Power of the Genome

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Illumina is Unlocking the Power of the Genome

SMARTEST COMPANY,2014 MIT Technology Review

10 BREAKTHROUGH TECHNOLOGIES,2013 MIT Technology Review

THE12 MOST DISRUPTIVENAMES IN BUSINESS,

2013 Forbes

TOP 10 INNOVATIONS,2012 The Scientist Magazine

FASTEST GROWING TECH COMPANIES,2010 Forbes

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$100 million

$10 million

$1 million

$100,000

$10,000

$1,000

$100

‘01 ‘02 ‘03 ‘04 ‘05 ‘06 ‘07 ‘08 ‘09 ‘10 ‘11 ‘12 ‘13 ‘14

In 2001 Sequencing One Human Genome Took About a Year and Cost $100 Million

Moore’s Law

$1,000

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>90% of the world’s sequencing data have been generated using Illumina sequencers.

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Genomics has Many ApplicationsAgriculture

BioPharm

Cancer

Complex Disease

Consumer

ForensicsGenetic Health

Infectious Disease

Population Genetics

Reproductive Health

Research

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2004 2005 2006 2007 2008 2009 2010 2011 2012 2013

A Decade of ProgressTowards our Vision

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2005 2006 2007 2008 2009 2010 2011 2012 20132004

A Decade of ProgressThe genomics transformation in society

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2005 2006 2007 2008 2009 2010 2011 2012 20132004

A Decade of ProgressThe genomics transformation in society

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2005 2006 2007 2008 2009 2010 2011 2012 20132004

A Decade of ProgressThe genomics transformation in society

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2005 2006 2008 2009 2010 2011 2012 20132004 2007

A Decade of ProgressThe genomics transformation in society

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2005 2006 2007 2008 2009 2010 2011 2012 20132004

A Decade of ProgressThe genomics transformation in society

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Changing Human HealthNext-generation sequencing moving rapidly into the clinic

Cancer PanelsWhole GenomeWhole ExomeTargeted

SequencingNon-Invasive

Prenatal Testing