Whole Exome Sequencing (WES) is next-generation technology.

T a b l e o f C o n t e n t s
L i s t o f T a b l e s
R e l a t e d R e p o r t s
S a m p l e T a b l e s
BT 2646 | 2014Biotechnology
MarketsandMarkets
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WHOLE EXOME SEQUENCING MARKET
[By Product (Systems, Kits (Library Preparation, Target Enrichment)), By Services (Sequencing),
By Technology (Sequencing by Synthesis),
By Application (Cancer, Monogenic disorders)]
– Global Forecast to 2018
R e p o r t D e s c r i p t i o n

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Whole Exome Sequencing Market – Global Forecast to 2018
© MarketsandMarkets
BT 2646
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All Rights Reserved. This document contains highly confidential information and is the sole property of
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approval of MarketsandMarkets.

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1 INTRODUCTION
1.1 OBJECTIVES OF THE STUDY
 To define and measure the global whole exome sequencing market with respect to
technologies, products and services, applications, and end users
 To analyze the market structure as well as provide a forecast of the various segments and
subsegments of the global whole exome sequencing market
 To provide detailed information regarding the major factors influencing the growth of the whole
exome sequencing market (drivers, restraints, and opportunities)
 To identify and analyze the high-growth segments/subsegments/regions presenting growth
opportunities for stakeholders
 To provide the historical and forecast revenues of the market segments and subsegments with
respect to four main geographies, namely, North America, Europe, Asia, and the Rest of the
World (RoW), which consists of Latin America, Africa, and the Pacific countries
 To provide strategic profiles of the key players in the market and to comprehensively analyze
their core competencies and market shares, in order to draw a competitive landscape for the
market
 To track and analyze competitive developments such as agreements, partnerships and
collaborations, marketing and promotion activities, acquisitions, and new product launches in
the global whole exome sequencing market

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1.2 MARKETS COVERED
The research report categorizes the global whole exome sequencing market into the following segments
and subsegments:
Global Whole Exome Sequencing Market, by Products and Services
 Products
 Systems
 Kits
 DNA Fragmentation, End Repair, A-Tailing, and Size Selection
 Library Preparation
 Target Enrichment
 Services
 Sequencing Services
 Data Analysis Services
 Others
Global Whole Exome Sequencing Market, by Technology
 Sequencing by Synthesis
 Ion Semiconductor Sequencing
 Others
Global Whole Exome Sequencing Market, by Application
 Diagnostics
 Cancer Diagnostics
 Monogenic Disorders
 Diabetes
 Others
 Drug Discovery and Development
 Personalized Medicine
 Agriculture and Animal Research
 Others
Global Whole Exome Sequencing Market, by End User
 Research Centers and Academic & Government Institutes
 Hospitals and Clinics

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 Pharmaceutical and Biotechnology Companies
 Others
Global Whole Exome Sequencing Market, by Geography
 North America
 Europe
 Asia
 Rest of the World (RoW)
1.3 STAKEHOLDERS
 WES instruments, kits, and related product manufacturing companies
 Suppliers and distributors of WES instruments and kits
 WES sequencing/bioinformatics/data analysis companies
 Research institutes and academic centers
 Pharmaceutical and biopharmaceutical companies
 Biotechnology companies
 Molecular diagnostic companies
 Business research and consulting service providers
 Healthcare institutions (hospitals, medical schools, and outpatient clinics)
 Government departments and agencies
 Venture capitalists

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1.4 RESEARCH METHODOLOGY
FIGURE 1 RESEARCH METHODOLOGY
1.4.1 SECONDARY RESEARCH
Several sources were referred to in order to identify and collect information useful for this extensive,
technical, and commercial study of the global western blotting market.
The following non-exclusive list of secondary sources was referred to:
Associations/Organizations:
International Chromosome and Genome Society (ICGS), The International Mammalian Genome Society,
The Center for Genomics and Society, Association of Environmental Mutagenesis and Genomics Societies
(IAEMGS), The National Human Genome Research Institute (NHGRI), The American Society of Human
Genetics, The Genetics Society of America (GSA), Genome Canada, European Society of Human Genetics
(ESHG), British Society for Human Genetics, The Genetic Society of China (GSC), The Genetic Society of
Japan, Indian Society of Genetics, Biotechnology Research & Development, The Indian Society of Genetics
and Plant Breeding (ISGPB), The Human Genetics Society of Australasia, Brazilian Association of
Mutagenesis and Environmental Genomics, and The Brazilian Society of Genetics.
Key Players: Annual Reports, SEC Filings, Investor Presentations, and Press Releases.
• Whole exome sequencing market segmentation
• Top-down approach
• Bottom-up approach
• Data triangulation
• Market estimation
• Market forecast
• Qualitative and quantitative analysis
Market
Crackdown
• Market classification for whole exome sequencing technologies
• Applications of whole exome sequencing
• Commonly available whole exome sequencing systems in the market
• Key players in the whole exome sequencing market
• Mapped developments of the key players
• Annual reports, SEC filings, investor presentations, and press releases of the key industry
players
Secondary
Research
• Whole exome sequencing market size
• Validation of the market drivers, restraints, and opportunities
• Geographical market split
• Market trends and forecast
• Value validation
Primary
Research

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Other Sources: NGS Journal, Forensic Magazine, Food Safety Magazine, and News Articles.
Paid Databases: Factiva, Thomson Reuters, and Hoovers.
The secondary research involved three major activities, including:
Background Study
 Building basic understanding of whole exome sequencing products and services
 Identifying the major technologies used in this market
 Identifying the major application areas and key players operating in this segment
 Identifying the data gaps and key players in each of the segments
Market Understanding
 Identifying the key end-users and their usage pattern for each segment
 Analyzing the competitive landscape
 Major players with their product portfolios
 Pricing
 Strategies adopted by the players to position their products
 Analyzing the market, by geography

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Trends
 Identifying and analyzing the key products and trends to draw notes in the final forecast
 Identifying the major drivers, restraints, and opportunities prevailing in the market
1.4.2 PRIMARY RESEARCH
In the primary research process, industry experts such as CEOs, presidents, vice presidents, directors,
marketing directors, marketing managers, and other key executives from various prominent companies
and organizations in the sequencing industry were interviewed to obtain and verify both the qualitative and
quantitative aspects of the market.
FIGURE 2 SAMPLING FRAME: PRIMARY RESEARCH
Key Opinion Leaders
North
America
Europe Asia
Rest of the
World (RoW)
Total
Presidents, CEOs, Vice Presidents,
Directors, General Managers, and Senior
Managers
Supply
Side
XX XX XX XX XX
Product/Sales/Marketing/Business/Develo
pment Client Portfolio Managers or
Specialists,
Distributors/Suppliers/Channel Partners,
and Business Intelligence Consultants
XX XX XX XX XX
R&D Specialists/Heads,
R&D/Senior/Principal/Lead/Application
Scientists, Research/Assistant/Associate
Professors/Bioinformatician,
and Directors/Analysts/Supervisors
Demand
Side
XX XX XX XX XX
Total XX XX XX XX XX

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1.4.2.1 Key data points from primary sources
Parameter Data Point
Global Whole Exome Sequencing Market Market size and projected CAGR (%) from 2013-2018.
Geographic Split for the Market
North America accounted for approximately XX%–XX%of the global whole
exome sequencing market in 2013, followed by Europe (XX%–XX%), Asia
(XX%–XX%), and RoW (XX%–XX%).
Whole Exome Sequencing Market, by
Technology
In 2013, the Sequencing by Synthesis segment accounted for a market share
of XX%–XX%.
Whole Exome Sequencing Market, by Product In 2013, the systems segment accounted for a market share of XX%–XX%.
Whole Exome Sequencing Market, by Service
In 2013, the sequencing services segment accounted for a market share of
XX%–XX%.
Whole Exome Sequencing Market, by
Application
In 2013, the diagnostics segment accounted for the largest share of around
XX%–XX%.
Whole Exome Sequencing Market, by End User
In 2013, the research centers and academic & government institutes
accounted for the largest share of around XX%–XX%.
Market Share
In the products segment, Illumina, Inc. (U.S.) dominated the market with a
share of XX%–XX%, followed by Life Technologies [Thermo Fisher Scientific, Inc.
(U.S.)] with a share of XX%–XX%.
The whole exome services market was dominated by BGI (China), Macrogen
(Korea), and Eurofins (Luxembourg) with market shares of XX%–XX%,
XX%–XX%, and XX%–XX%, respectively.
1.4.3 MARKET SIZE ESTIMATION METHODOLOGY
All the percentage shares, splits, and breakdowns were determined using secondary sources and verified
through primary sources. All the possible parameters that affect the markets covered in this research study
have been accounted for, viewed in extensive detail, verified through primary research, and analyzed to get
the final quantitative and qualitative data. This data is consolidated and added with detailed inputs and
analysis from MarketsandMarkets.

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FIGURE 3 MARKET SIZE ESTIMATION METHODOLOGY (1/3)
SecondaryandPrimary
Research Generating a list of next-generation sequencing systems that have capabilities for
whole exome sequencing
Mapping the revenues generated by the sales of these systems (2013) and arriving at
the next-generation sequencing systems market
Whole exome sequencing accounted for a share of 15%–20% (2013) of the next-
generation sequencing systems market
Arriving at the whole exome sequencing systems market
A

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SecondaryandPrimary
Research
Systems market accounted for 60% of the Whole Exome Sequencing products (systems and
kits) market
Extrapolation of the Whole Exome Sequencing systems market* to XX% to arrive at Whole
Exome Sequencing products (Systems & Kits) Market
Whole Exome Sequencing products (Systems & Kits) Market account for XX% of Whole
Exome Sequencing (Systems & Kits, & Services) Market
Arriving at Whole Exome Sequencing (Systems & Kits, & Services) Market B
A
B
SecondaryandPrimary
Research
Total Whole Exome Sequencing (Systems, Kits, and Services) Market
Percentage Split of the Market Segments and Subsegments
Market Size of the Segments and Subsegments

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FIGURE 6 MARKET SIZING ANALYSIS
*Note: The market numbers were triangulated with reference to the annual reports and SEC filings of the key players in the global
whole exome sequencing market
Summing up whole exome sequencing
products & services market to arrive at total
market size
Generating the list of players operating in the
global whole exome sequencing
market
Mapping the revenues generated by the sales
of the whole exome sequencing
products and services, by company
Mapping of revenues of the companies that
account for XX%–XX% of the products market
and XX%-XX% of the services market
Calculation of the product and services
market* respectively to XX%
Market Sizing ($Value Analysis)
B
Secondary&Primary
Research

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FIGURE 7 MARKET SHARE ASSESSMENT
1.4.4 MARKET FORECAST MODEL
The market forecasts for various segments and subsegments have been derived on the basis of the
following factors:
 Government support/funding/grants/incentive programs
 Conferences/awareness programs
 Technological advancements/application area horizon/competitive intensity
 Traction areas in the respective segments and subsegments
 Issues involved/barriers in adoption
Market Share Assessment, (2013)
Secondary Research
focused on
• Company Websites
• Annual reports
• SEC filing
• Investor Presentations
• Press Releases
• Product guides
• Other relevant sources
to gauge the pulse of
the market
Primary Research focused on
• Mapping major players, their
market share, historical
sales, product availability &
distribution, usage pattern,
product portfolio/features,
pricing of products, strategies
adopted, technological
advancements
• Regulatory/Reimbursement
scenario, by region
• Application areas horizon
• Business
environment/Market
dynamics, by region
• Issues involved/Unmet
needs/Barriers to adoption
Major players operating in global
whole exome sequencing market
Market Share of different
players for respective
markets = C/D
Primary and Secondary Research
Revenue reaped by sales of whole exome
sequencing products & services, by
Company
Total market size of whole exome
sequencing market
C
From B
D

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FIGURE 8 MARKET FORECASTING MODEL
1.4.5 MARKET DATA VALIDATION AND DATA TRIANGULATION
In order to complete the overall market engineering process and arrive at the exact statistics for all the
market segments and subsegments, data triangulation and market validation procedures explained below
were implemented, wherever applicable.
Historical Data for the
Market
Technological
Advancement Trends
Pricing Trends
Market Share
Regulatory
Landscape
Product
Availability/
Usage Pattern
Influencing Factors
Market Drivers
• Low cost and high speed of WES technology
• Increase use in new scientific application
• Increase adoption of WES by consumers
• Alliances and partnerships among the key
players and research institutes in the market
• Emergence of new players in the market
Geographic Analysis:
Market Dynamics, Business Environment
Assessment, Regulatory/Reimbursement Scenario
Assessment across North America, Europe, Asia
and Rest of the World
Forecasting
Historical Data of Market
Influencing Factors
Market Size & Forecast,
by Product & Services
Market Size & Forecast,
by Geography
Value/Volume
Issues
involved/Unmet
needs/Barriers to
adoption
Application Areas
Horizon
Competitive Landscape/Intensity:
• Presence of well established & local
players
• Product portfolio/features
assessment
• Pricing assessment of products
• Strategies adopted
• Technological advancements
Market Restraints:
• Need for skilled professionals
• High reliability on grants
• Ethical and legal issues

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FIGURE 9 DATA TRIANGULATION METHODOLOGY
Market Estimation
Top-down Approach
Bottom-up Approach
Secondary
Sources
Primary
Sources
DATA TRIANGULATION
Interviews with:
• R&D Specialists/Heads
• R&D/Senior/Principal/Lead/Applic
ation Scientists
• Research/Assistant/Associate
Professors/Bioinformatician
• Directors/Analysts/Supervisors
Interview were conducted to get
insights on major applications and
usage patterns of molecular
spectroscopy technologies
Interviews with:
• CEOs, Presidents, Vice
Presidents,
Product/Sales/Marketing/Busin
ess Development
Managers/Business
Intelligence Consultants
• Suppliers/Distributors
• Other stakeholders of whole
exome sequencing market
Interview were conducted to get
insights on market size, market
growth, key players, strategies, and
market shares
PRIMARY SOURCES
Market Share Analysis:
Major players mapped on the
basis of revenues, product
portfolios, and sales/
distribution channels
Geographic Analysis:
Regional contribution to arrive
at market size for segments
and sub-segments, and to
identify lucrative markets
Competitive Assessment:
Assessment of major players
to provide strategic profiles
and comprehensively analyze
their core competencies
SECONDARY
SOURCES
Research Outcome
1) Key Players
2) Market Size(2013)
3) Market Share (2013)
4) Growth forecasts (2018), by region
1) Drivers/Restraints/Opportunities
2) Promising Markets and Product Segments
3) Usage Pattern
4) Competitive Landscape
DemandSideSupplySide
$Value Analysis:
Identify prominent
segments/regions/applications;
drivers/restraints/opportunities to
estimate the market forecast

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1.5 ASSUMPTIONS
Whole Exome Sequencing
market , by Products and
Services
Market, by Technology
Market, by Application
PARAMETERS ASSUMPTIONS
Base year for calculation is 2013. A percentage
split of XX% for products, and XX% for services
has been assumed, which was later confirmed by
both primary and secondary sources.
Market, by End user
Product Market, by Type
split of XX% for sequencing by synthesis, XX% for
ion semiconductor sequencing and XX% for
others has been assumed, which was later
confirmed by both primary and secondary
sources.
split of XX% for diagnostics, and XX% for drug
discovery and development, XX% for personalized
medicine, XX% for agriculture and animal
research and XX% for others has been assumed,
which was later confirmed by both primary and
secondary sources.
split of XX% for research center, academic and
government institution, XX% for hospitals and
clinics, XX% for pharmaceutical and biotechnology
companies and XX% for others has been
assumed, which was later confirmed by both
primary and secondary sources.
split of XX% for systems and XX% for kits has
been assumed, which was later confirmed by both
primary and secondary sources.
1
2
3
4
5

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TABLE OF CONTENTS
1 INTRODUCTION........................................................................................................ 22
1.1 OBJECTIVES OF THE STUDY...........................................................................................................22
1.2 MARKETS COVERED .....................................................................................................................23
1.3 STAKEHOLDERS...........................................................................................................................24
1.4 RESEARCH METHODOLOGY ..........................................................................................................25
1.4.1 SECONDARY RESEARCH.................................................................................................25
1.4.2 PRIMARY RESEARCH......................................................................................................27
1.4.2.1 Key data points from primary sources.................................................................28
1.4.3 MARKET SIZE ESTIMATION METHODOLOGY.....................................................................29
1.4.4 MARKET FORECAST MODEL............................................................................................32
1.4.5 MARKET DATA VALIDATION AND DATA TRIANGULATION...................................................33
1.5 ASSUMPTIONS.............................................................................................................................35
2 EXECUTIVE SUMMARY.............................................................................................. 36
3 MARKET OVERVIEW.................................................................................................. 41
3.1 INTRODUCTION ............................................................................................................................42
3.2 MARKET DYNAMICS......................................................................................................................42
3.2.1 DRIVERS........................................................................................................................43
3.2.1.1 Low cost and high speed of the WES technology to drive the growth of
the market ........................................................................................................43
3.2.1.2 Increasing number of new scientific applications to fuel the market
growth...............................................................................................................44
3.2.1.3 Adoption of WES technology by new consumers to propel the market
growth...............................................................................................................45
3.2.1.4 Global alliances amongst leading research institutes to trigger drug
discovery...........................................................................................................45
3.2.1.5 Entry of new players is propelling the growth of the WES market..........................46
3.2.2 RESTRAINTS...................................................................................................................47
3.2.2.1 Need for skilled professionals............................................................................47
3.2.2.2 High reliability on grants to restrict growth..........................................................47
3.2.2.3 Ethical and legal issues related to whole exome sequencing...............................47
3.2.3 OPPORTUNITY ................................................................................................................48
3.2.3.1 Personalized medicine to fuel the demand for WES technology...........................48
3.3 MARKET SHARE ANALYSIS............................................................................................................49
3.3.1 WHOLE EXOME SEQUENCING PRODUCTS MARKET, BY KEY PLAYER.................................49
3.3.2 WHOLE EXOME SEQUENCING SERVICES MARKET,
BY KEY PLAYER...............................................................................................................53

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4 WHOLE EXOME SEQUENCING MARKET, BY PRODUCTS AND SERVICES...................... 59
4.1 INTRODUCTION ............................................................................................................................60
4.2 SYSTEMS .....................................................................................................................................64
4.2.1 INTRODUCTION..............................................................................................................64
4.2.2 HISEQ SERIES................................................................................................................66
4.2.2.1 HiSeq 2500 and HiSeq 1500.............................................................................66
4.2.3 MISEQ ...........................................................................................................................66
4.2.4 ION TORRENT PLATFORMS .............................................................................................67
4.2.4.1 Ion PGM and Ion Proton.....................................................................................67
4.3 KITS.............................................................................................................................................68
4.3.1 INTRODUCTION..............................................................................................................68
4.3.2 DNA FRAGMENTATION, END REPAIR, A-TAILING, AND SIZE SELECTION KITS ....................71
4.3.3 LIBRARY PREPARATION KITS ..........................................................................................73
4.3.4 TARGET ENRICHMENT KITS.............................................................................................75
4.4 SERVICES ....................................................................................................................................77
4.4.1 INTRODUCTION..............................................................................................................77
4.4.2 SEQUENCING SERVICES MARKET...................................................................................78
4.4.3 DATA ANALYSIS (BIOINFORMATICS) SERVICES ...............................................................80
4.4.4 OTHER SERVICES ...........................................................................................................81
5 GLOBAL WHOLE EXOME SEQUENCING MARKET,
BY TECHNOLOGY...................................................................................................... 83
5.1 INTRODUCTION ............................................................................................................................84
5.2 SEQUENCING BY SYNTHESIS (SBS)...............................................................................................86
5.2.1 TECHNOLOGY.................................................................................................................86
5.2.2 ADVANTAGES.................................................................................................................86
5.2.3 LIMITATIONS..................................................................................................................86
5.2.4 APPLICATIONS...............................................................................................................87
5.2.5 PLATFORMS...................................................................................................................87
5.3 ION SEMICONDUCTOR SEQUENCING............................................................................................88
5.3.1 TECHNOLOGY.................................................................................................................88
5.3.2 ADVANTAGES.................................................................................................................88
5.3.3 LIMITATIONS..................................................................................................................88
5.3.4 APPLICATIONS...............................................................................................................88
5.3.5 PLATFORMS...................................................................................................................89
5.4 OTHER TECHNOLOGIES.................................................................................................................90
5.4.1 SEQUENCING BY LIGATION (SBL)....................................................................................90
5.4.1.1 Technology........................................................................................................90
5.4.1.2 Advantages.......................................................................................................90
5.4.1.3 Limitations........................................................................................................90
5.4.1.4 Applications......................................................................................................90

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5.4.2 PYROSEQUENCING.........................................................................................................91
5.4.2.1 Technology........................................................................................................91
5.4.2.2 Advantages.......................................................................................................91
5.4.2.3 Applications......................................................................................................91
6 WHOLE EXOME SEQUENCING MARKET, BY APPLICATION .......................................... 93
6.1 INTRODUCTION ............................................................................................................................94
6.2 DIAGNOSTICS ..............................................................................................................................96
6.2.1 CANCER DIAGNOSTICS...................................................................................................99
6.2.2 MONOGENIC (MENDELIAN) DISORDERS.......................................................................100
6.2.3 MONOGENIC TYPES OF DIABETES.................................................................................102
6.2.4 OTHER DIAGNOSTIC APPLICATIONS..............................................................................103
6.2.4.1 Common diseases and complex disorders........................................................103
6.2.4.2 Movement disorders........................................................................................103
6.2.4.3 HIV..................................................................................................................103
6.3 DRUG DISCOVERY AND DEVELOPMENT.......................................................................................105
6.4 PERSONALIZED MEDICINE..........................................................................................................107
6.5 AGRICULTURE & ANIMAL RESEARCH ..........................................................................................109
6.6 OTHER APPLICATIONS ................................................................................................................111
7 GLOBAL WHOLE EXOME SEQUENCING MARKET, BY END USER................................ 112
7.1 INTRODUCTION ..........................................................................................................................113
7.1.1 RESEARCH CENTERS AND ACADEMIC & GOVERNMENT INSTITUTES ..............................115
7.1.2 HOSPITALS AND CLINICS..............................................................................................117
7.1.3 PHARMACEUTICAL & BIOTECHNOLOGY COMPANIES.....................................................118
7.1.4 OTHER END USERS.......................................................................................................120
8 GLOBAL WHOLE EXOME SEQUENCING MARKET, BY GEOGRAPHY ............................ 121
8.1 INTRODUCTION ..........................................................................................................................122
8.2 NORTH AMERICA........................................................................................................................124
8.2.1 INCREASING USE OF WHOLE EXOME SEQUENCING FOR DIAGNOSIS OF RARE
DISEASES PROPELS THE MARKET GROWTH ..................................................................124
8.2.2 GOVERNMENT FUNDS FOR EXOME SEQUENCING TO BOOST THE MARKET .....................125
8.2.3 FAVORABLE INITIATIVES BY THE CANADIAN GOVERNMENT TO TRIGGER THE
WES MARKET IN THE COUNTRY.....................................................................................125
8.2.4 CONFERENCES & ANNUAL MEETINGS TO CREATE AWARENESS ABOUT WES
TECHNOLOGIES............................................................................................................126
8.3 EUROPE.....................................................................................................................................137
8.3.1 INVESTMENTS IN RARE DISEASE RESEARCH LIKELY TO BOOST THE WES
MARKET IN EUROPE .....................................................................................................137
8.3.2 BELGIUM TO CONTRIBUTE SUBSTANTIALLY TO MARKET GROWTH IN EUROPE ................138
8.3.3 INCREASING FUNDING FOR MOLECULAR DIAGNOSTICS IN EUROPE IS LIKELY
TO PROPEL THE GROWTH OF THE WES MARKET.............................................................138

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8.3.4 CONFERENCES & MEETINGS HOSTED IN EUROPE TO FUEL THE MARKET
GROWTH......................................................................................................................139
8.4 ASIA...........................................................................................................................................150
8.4.1 ASIAN COUNTRIES ARE INCREASINGLY FOCUSING ON RESEARCH IN WES.....................150
8.4.2 STRATEGIC EXPANSIONS AND AQUISITIONS BY KEY PLAYERS IN CHINA TO
BOOST THE MARKET.....................................................................................................151
8.4.3 REGULAR FUNDING FROM INDIAN GOVERNMENT, AN IMPETUS TO THE WES
MARKET.......................................................................................................................151
8.4.4 LARGE NUMBER OF CONFERENCES AND SYMPOSIA IN ASIA TO DRIVE
MARKET GROWTH ........................................................................................................152
8.5 REST OF THE WORLD (ROW)........................................................................................................161
8.5.1 BIOINFORMATICS AND BIOTECHNOLOGY RESEARCH IN LATIN AMERICA TO
PROPEL THE GROWTH OF THE MARKET .........................................................................162
8.5.2 GENOMIC & PROTEOMIC RESEARCH IN AUSTRALIA TO DRIVE THE GROWTH
OF THE MARKET ...........................................................................................................162
8.5.3 FLOURISHING BIOTECHNOLOGY & PHARMACEUTICAL MARKETS IN BRAZIL TO
BOLSTER THE GROWTH OF THE MARKET........................................................................163
9 COMPETITIVE LANDSCAPE ..................................................................................... 171
9.1 INTRODUCTION ..........................................................................................................................171
9.2 AGREEMENTS, PARTNERSHIPS, & COLLABORATIONS .................................................................173
9.3 NEW PRODUCT LAUNCHES .........................................................................................................176
9.4 EXPANSIONS..............................................................................................................................180
9.5 ACQUISITIONS............................................................................................................................183
9.6 OTHERS .....................................................................................................................................186
10 COMPANY PROFILES.............................................................................................. 189
10.1 ILLUMINA, INC............................................................................................................................189
10.1.1 BUSINESS OVERVIEW...................................................................................................189
10.1.2 COMPANY SNAPSHOT ..................................................................................................190
10.1.3 PRODUCTS AND SERVICES...........................................................................................190
10.1.4 GROWTH STRATEGIES ..................................................................................................191
10.1.5 RECENT DEVELOPMENTS..............................................................................................192
10.1.6 SWOT ANALYSIS...........................................................................................................195
10.1.7 MNM VIEW...................................................................................................................195
10.2 THERMO FISHER SCIENTIFIC, INC. ..............................................................................................196
10.2.3 PRODUCT PORTFOLIO...................................................................................................197
10.2.4 GROWTH STRATEGIES ..................................................................................................198
10.2.6 SWOT ANALYSIS...........................................................................................................202
10.2.7 MNM VIEW...................................................................................................................203

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10.3 BEIJING GENOMICS INSTITUTE (BGI)...........................................................................................204
10.3.2 FINANCIAL OVERVIEW ..................................................................................................204
10.3.3 SERVICES ....................................................................................................................204
10.3.4 GROWTH STRATEGY......................................................................................................205
10.3.6 SWOT ANALYSIS...........................................................................................................212
10.3.7 MNM VIEW...................................................................................................................212
10.4 MACROGEN, INC. .......................................................................................................................213
10.4.3 SERVICES ....................................................................................................................214
10.4.4 GROWTH STRATEGY......................................................................................................214
10.4.6 SWOT ANALYSIS...........................................................................................................216
10.4.7 MNM VIEW...................................................................................................................216
10.5 EUROFINS GENOMICS, INC.........................................................................................................217
10.5.3 SERVICES ....................................................................................................................218
10.5.4 GROWTH STRATEGY......................................................................................................218
10.5.6 SWOT ANALYSIS...........................................................................................................221
10.5.7 MNM VIEW...................................................................................................................221
10.6 AGILENT TECHNOLOGIES, INC.....................................................................................................222
10.6.4 GROWTH STRATEGY......................................................................................................225
10.7 AMBRY GENETICS ......................................................................................................................229
10.7.3 SERVICES ....................................................................................................................229
10.7.4 GROWTH STRATEGY......................................................................................................229
10.8 GENEWIZ, INC. ...........................................................................................................................231
10.8.3 SERVICES ....................................................................................................................231
10.8.4 GROWTH STRATEGY......................................................................................................231

21
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10.9 KNOME, INC...............................................................................................................................234
10.9.4 GROWTH STRATEGY......................................................................................................235
10.10 ROCHE NIMBLEGEN, INC............................................................................................................238
10.10.4 GROWTH STRATEGY......................................................................................................240
10.11 SENGENICS................................................................................................................................243
10.11.3 SERVICES ....................................................................................................................243
10.11.4 GROWTH STRATEGY......................................................................................................244

22
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LIST OF TABLES
UU
TABLE 1 PRICE COMPARISON FOR WHOLE GENOME AND WHOLE EXOME SEQUENCING 44
TABLE 2 ILLUMINA, INC.: YEAR-ON-YEAR INCREASE IN THE NUMBER OF COMMERCIAL
EMPLOYEES, BY GEOGRAPHY, 2013 51
TABLE 3 GLOBAL WHOLE EXOME SEQUENCING MARKET SIZE, BY PRODUCTS AND
SERVICES, 2011–2018 ($MILLION) 61
TABLE 4 GLOBAL WHOLE EXOME SEQUENCING PRODUCTS MARKET SIZE,
BY TYPE, 2011–2018 ($MILLION) 62
BY REGION, 2011–2018 ($MILLION) 63
TABLE 6 TECHNICAL SPECIFICATIONS OF SEQUENCING SYSTEMS 64
TABLE 7 GLOBAL WHOLE EXOME SEQUENCING SYSTEMS MARKET SIZE,
TABLE 8 COMPARISON OF EXOME SEQUENCING KITS 69
TABLE 9 GLOBAL WHOLE EXOME SEQUENCING KITS MARKET SIZE, BY TYPE, 2011–2018
($MILLION) 70
TABLE 10 GLOBAL WHOLE EXOME SEQUENCING KITS MARKET SIZE, BY REGION, 2011–
2018 ($MILLION) 71
TABLE 11 WHOLE EXOME SEQUENCING MARKET SIZE FOR DNA FRAGMENTATION, END
REPAIR, A-TAILING, AND SIZE SELECTION KITS, BY REGION, 2011–2018
($MILLION) 73
TABLE 12 WHOLE EXOME SEQUENCING MARKET SIZE FOR LIBRARY PREPARATION KITS, BY
REGION, 2011–2018 ($MILLION) 75
TABLE 13 WHOLE EXOME SEQUENCING MARKET SIZE FOR TARGET ENRICHMENT KITS, BY
TABLE 14 GLOBAL WHOLE EXOME SEQUENCING SERVICES MARKET SIZE,
BY TYPE, 2011–2018 ($MILLION) 77
TABLE 15 GLOBAL WHOLE EXOME SEQUENCING SERVICES MARKET SIZE,
TABLE 16 WHOLE EXOME SEQUENCING MARKET SIZE FOR SEQUENCING SERVICES, BY
GEOGRAPHY, 2011–2018 ($MILLION) 79
TABLE 17 WHOLE EXOME SEQUENCING MARKET SIZE FOR DATA ANALYSIS SERVICES, BY
TABLE 18 WHOLE EXOME SEQUENCING MARKET SIZE FOR OTHER SERVICES,
TABLE 19 GLOBAL WHOLE EXOME SEQUENCING MARKET SIZE, BY TECHNOLOGY, 2011–
2018 ($MILLION) 85
TABLE 20 WHOLE EXOME SEQUENCING MARKET SIZE FOR SEQUENCING,
BY SYNTHESIS TECHNOLOGY, BY REGION, 2011–2018 ($MILLION) 87
TABLE 21 WHOLE EXOME SEQUENCING MARKET SIZE FOR ION SEMICONDUCTOR
SEQUENCING TECHNOLOGY, BY REGION, 2011–2018 ($MILLION) 89
TABLE 22 WHOLE EXOME SEQUENCING MARKET SIZE FOR OTHER SEQUENCING
TECHNOLOGIES, BY REGION, 2011–2018 ($MILLION) 92
TABLE 23 GLOBAL WHOLE EXOME SEQUENCING MARKET SIZE, BY APPLICATION, 2011–
2018 ($MILLION) 95

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TABLE 24 WHOLE EXOME SEQUENCING MARKET SIZE FOR DIAGNOSTIC APPLICATIONS, BY
TYPE, 2011–2018 ($MILLION) 97
TABLE 25 WHOLE EXOME SEQUENCING MARKET SIZE FOR DIAGNOSTIC APPLICATIONS, BY
TABLE 26 WHOLE EXOME SEQUENCING MARKET SIZE FOR CANCER DIAGNOSTICS, BY
TABLE 27 WHOLE EXOME SEQUENCING MARKET SIZE FOR MONOGENIC DISORDER
DIAGNOSTICS, BY REGION, 2011–2018 ($MILLION) 101
TABLE 28 WHOLE EXOME SEQUENCING MARKET SIZE FOR MONOGENIC TYPES OF DIABETES,
TABLE 29 WHOLE EXOME SEQUENCING MARKET SIZE FOR OTHER DIAGNOSTIC
APPLICATIONS, BY REGION, 2011–2018 ($MILLION) 104
TABLE 30 WHOLE EXOME SEQUENCING MARKET SIZE FOR DRUG DISCOVERY AND
DEVELOPMENT, BY REGION, 2011–2018 ($MILLION) 106
TABLE 31 WHOLE EXOME SEQUENCING MARKET SIZE FOR PERSONALIZED MEDICINE, BY
TABLE 32 WHOLE EXOME SEQUENCING MARKET SIZE FOR AGRICULTURE AND ANIMAL
RESEARCH, BY REGION, 2011–2018 ($MILLION) 110
TABLE 33 WHOLE EXOME SEQUENCING MARKET SIZE FOR OTHER APPLICATIONS, BY
TABLE 34 GLOBAL WHOLE EXOME SEQUENCING MARKET SIZE, BY END USER, 2011–2018
($MILLION) 114
TABLE 35 WHOLE EXOME SEQUENCING MARKET SIZE FOR RESEARCH CENTERS AND
ACADEMIC & GOVERNMENT INSTITUTES, BY REGION,
2011–2018 ($MILLION) 116
TABLE 36 WHOLE EXOME SEQUENCING MARKET SIZE FOR HOSPITALS AND CLINICS, BY
TABLE 37 WHOLE EXOME SEQUENCING MARKET SIZE FOR PHARMACEUTICAL AND
BIOTECHNOLOGY COMPANIES, BY REGION,
2011–2018 ($MILLION) 119
TABLE 38 WHOLE EXOME SEQUENCING MARKET SIZE FOR OTHER END USERS,
TABLE 39 WHOLE EXOME SEQUENCING MARKET SIZE, BY REGION,
2011–2018 ($MILLION) 123
TABLE 40 CONFERENCES/MEETINGS/FORUMS/WORKSHOPS IN THE U.S., 2014 126
TABLE 41 NORTH AMERICA: WHOLE EXOME SEQUENCING MARKET SIZE,
BY TECHNOLOGY, 2011–2018 ($MILLION) 129
BY PRODUCTS AND SERVICES, 2011–2018 ($MILLION) 130
TABLE 43 NORTH AMERICA: WHOLE EXOME SEQUENCING PRODUCTS MARKET SIZE, BY
TYPE, 2011–2018 ($MILLION) 131
TABLE 44 NORTH AMERICA: WHOLE EXOME SEQUENCING KITS MARKET SIZE,
BY TYPE, 2011–2018 ($MILLION) 132
TABLE 45 NORTH AMERICA: WHOLE EXOME SEQUENCING SERVICES MARKET SIZE, BY TYPE,
2011–2018 ($MILLION) 133
BY APPLICATION, 2011–2018 ($MILLION) 134
TABLE 47 NORTH AMERICA: WHOLE EXOME SEQUENCING MARKET SIZE FOR DIAGNOSTIC
APPLICATIONS, BY TYPE, 2011–2018 ($MILLION) 135
BY END USER, 2011–2018 ($MILLION) 136
TABLE 49 CONFERENCES/MEETINGS/FORUMS/WORKSHOPS IN EUROPE, 2014 139

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TABLE 50 EUROPE: WHOLE EXOME SEQUENCING MARKET SIZE,
BY TECHNOLOGY, 2011–2018 ($MILLION) 142
TABLE 51 EUROPE: WHOLE EXOME SEQUENCING MARKET SIZE, BY PRODUCTS AND
SERVICES, 2011–2018 ($MILLION) 143
TABLE 52 EUROPE: WHOLE EXOME SEQUENCING PRODUCTS MARKET SIZE,
BY TYPE, 2011–2018 ($MILLION) 144
TABLE 53 EUROPE: WHOLE EXOME SEQUENCING KITS MARKET SIZE, BY TYPE, 2011–2018
($MILLION) 145
TABLE 54 EUROPE: WHOLE EXOME SEQUENCING SERVICES MARKET SIZE,
BY TYPE, 2011–2018 ($MILLION) 146
TABLE 55 EUROPE: WHOLE EXOME SEQUENCING MARKET SIZE, BY APPLICATION, 2011–
2018 ($MILLION) 147
TABLE 56 EUROPE: WHOLE EXOME SEQUENCING MARKET SIZE FOR DIAGNOSTIC
APPLICATIONS, BY TYPE, 2011–2018 ($MILLION) 148
TABLE 57 EUROPE: WHOLE EXOME SEQUENCING MARKET SIZE, BY END USER, 2011–2018
($MILLION) 149
TABLE 58 CONFERENCES/MEETINGS/FORUMS/WORKSHOPS IN ASIA, 2014 152
TABLE 59 ASIA: WHOLE EXOME SEQUENCING MARKET SIZE, BY TECHNOLOGY, 2011–2018
($MILLION) 154
TABLE 60 ASIA: WHOLE EXOME SEQUENCING MARKET SIZE, BY PRODUCTS AND SERVICES,
2011–2018 ($MILLION) 155
TABLE 61 ASIA: WHOLE EXOME SEQUENCING PRODUCTS MARKET SIZE, BY TYPE, 2011–
2018 ($MILLION) 156
TABLE 62 ASIA: WHOLE EXOME SEQUENCING KITS MARKET SIZE, BY TYPE, 2011–2018
($MILLION) 157
TABLE 63 ASIA: WHOLE EXOME SEQUENCING SERVICES MARKET SIZE, BY TYPE, 2011–2018
($MILLION) 158
TABLE 64 ASIA: WHOLE EXOME SEQUENCING MARKET SIZE, BY APPLICATION, 2011–2018
($MILLION) 159
TABLE 65 ASIA: WHOLE EXOME SEQUENCING MARKET SIZE FOR DIAGNOSTIC APPLICATIONS,
BY TYPE, 2011–2018 ($MILLION) 160
TABLE 66 ASIA: WHOLE EXOME SEQUENCING MARKET SIZE, BY END USER, 2011–2018
($MILLION) 161
TABLE 67 ROW: WHOLE EXOME SEQUENCING MARKET SIZE, BY TECHNOLOGY, 2011–2018
($MILLION) 163
TABLE 68 ROW: WHOLE EXOME SEQUENCING MARKET SIZE, BY PRODUCTS AND SERVICES,
2011–2018 ($MILLION) 164
TABLE 69 ROW: WHOLE EXOME SEQUENCING PRODUCTS MARKET SIZE, BY TYPE, 2011–
2018 ($MILLION) 165
TABLE 70 ROW: WHOLE EXOME SEQUENCING KITS MARKET SIZE, BY TYPE, 2011–2018
($MILLION) 166
TABLE 71 ROW: WHOLE EXOME SEQUENCING SERVICES MARKET SIZE, BY TYPE, 2011–
2018 ($MILLION) 167
TABLE 72 ROW: WHOLE EXOME SEQUENCING MARKET SIZE, BY APPLICATION, 2011–2018
($MILLION) 168
TABLE 73 ROW: WHOLE EXOME SEQUENCING MARKET SIZE FOR DIAGNOSTIC APPLICATIONS,
BY TYPE, 2011–2018 ($MILLION) 169
TABLE 74 ROW: WHOLE EXOME SEQUENCING MARKET SIZE, BY END USER, 2011–2018
($MILLION) 170
TABLE 75 AGREEMENTS, PARTNERSHIPS, & COLLABORATIONS, 2011–2014 175
TABLE 76 NEW PRODUCT LAUNCHES, 2012–2014 178

25
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TABLE 77 EXPANSIONS, 2011–2013 181
TABLE 78 ACQUISITIONS, 2011–2014 184
TABLE 79 OTHERS, 2011–2014 187

26
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LIST OF FIGURES
FIGURE 1 RESEARCH METHODOLOGY 25
FIGURE 2 SAMPLING FRAME: PRIMARY RESEARCH 27
FIGURE 3 MARKET SIZE ESTIMATION METHODOLOGY (1/3) 29
FIGURE 6 MARKET SIZING ANALYSIS 31
FIGURE 7 MARKET SHARE ASSESSMENT 32
FIGURE 8 MARKET FORECASTING MODEL 33
FIGURE 9 DATA TRIANGULATION METHODOLOGY 34
FIGURE 10 GLOBAL WHOLE EXOME SEQUENCING MARKET SIZE, BY PRODUCTS AND
SERVICES, 2013 VS. 2018 37
FIGURE 11 GLOBAL WHOLE EXOME SEQUENCING MARKET SIZE, BY GEOGRAPHY, 2013
($MILLION) 39
FIGURE 12 MARKET DYNAMICS 43
FIGURE 13 WHOLE EXOME SEQUENCING PRODUCTS MARKET SHARE,
BY KEY PLAYER 49
FIGURE 14 WHOLE EXOME SEQUENCING SERVICES MARKET SHARE,
BY KEY PLAYER 54
FIGURE 15 WHOLE EXOME SEQUENCING MARKET SEGMENTATION 60
FIGURE 16 COMMONLY AVAILABLE SEQUENCING KITS 68
FIGURE 17 PROCESS WORKFLOW OF DNA FRAGMENTATION, END REPAIR,
A-TAILING, AND SIZE SELECTION KITS 72
FIGURE 18 WHOLE EXOME SEQUENCING TECHNOLOGY MARKET SEGMENTATION 84
FIGURE 19 WHOLE EXOME SEQUENCING MARKET SEGEMENTATION,
BY APPLICATION 94
FIGURE 20 WHOLE EXOME SEQUENCING MARKET, BY END USER 113
FIGURE 21 WHOLE EXOME SEQUENCING MARKET OUTLOOK, BY GEOGRAPHY,
2013 VS. 2018 ($MILLION) 122
FIGURE 22 GLOBAL WHOLE EXOME SEQUENCING MARKET: KEY GROWTH STRATEGIES,
2011–2014 171
FIGURE 23 KEY PLAYERS FOCUSING ON AGREEMENTS, PARTNERSHIPS, & COLLABORATIONS,
2011–2014 173
FIGURE 24 KEY PLAYERS FOCUSING ON NEW PRODUCT LAUNCHES, 2011–2014 176
FIGURE 25 KEY PLAYERS FOCUSING ON EXPANSIONS, 2011–2014 180
FIGURE 26 KEY PLAYERS FOCUSING ON ACQUISITIONS, 2011–2014 183
FIGURE 27 KEY PLAYERS FOCUSING ON OTHER STRATEGIES, 2011–2014 186

27
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SAMPLE TABLES
TABLE 1 ILLUMINA, INC.: YEAR-ON-YEAR INCREASE IN THE NUMBER OF COMMERCIAL
EMPLOYEES, BY GEOGRAPHY, 2013
Region Direct Sales Field Staff
AMR XX% XX%
EMEA XX% XX%
APAC XX% XX%
All Regions XX% XX%
Source: Illumina, Inc. Investor Presentation, 2013
BY REGION, 2011–2018 ($MILLION)
Region 2011 2012 2013 2018
CAGR%
(2013–2018)
North America XX XX XX XX XX
Europe XX XX XX XX XX
APAC XX XX XX XX XX
RoW XX XX XX XX XX
Source: Press Releases, International Chromosome and Genome Society (ICGS), The International Mammalian Genome Society, The
Center for Genomics and Society, Association of Environmental Mutagenesis and Genomics Societies (IAEMGS), The National Human
Genome Research Institute (NHGRI), The Genetics Society of America (GSA), Genome Canada, European Society of Human Genetics
(ESHG), British Society for Human Genetics, The Genetic Society of China (GSC), The Genetic Society of Japan, The Indian Society of
Genetics and Plant Breeding (ISGPB), The Human Genetics Society of Australasia, The Brazilian Society of Genetics, Expert
Interviews, and MarketsandMarkets Analysis
TABLE 3 GLOBAL WHOLE EXOME SEQUENCING KITS MARKET SIZE,
BY TYPE, 2011–2018 ($MILLION)
Segment 2011 2012 2013 2018
CAGR%
(2013–2018)
Library Preparation Kits XX XX XX XX XX
DNA Fragmentation, End Repair,
A-Tailing, and Size Selection XX XX XX XX XX
Target Enrichment Kits XX XX XX XX XX
Source: Press Releases, International Chromosome and Genome Society (ICGS), The International Mammalian Genome Society, The
Center for Genomics and Society, Association of Environmental Mutagenesis and Genomics Societies (IAEMGS), The National Human
Genome Research Institute (NHGRI), The Genetics Society of America (GSA), Genome Canada, European Society of Human Genetics
(ESHG), British Society for Human Genetics, The Genetic Society of China (GSC), The Genetic Society of Japan, The Indian Society of
Genetics and Plant Breeding (ISGPB), The Human Genetics Society of Australasia, The Brazilian Society of Genetics, Expert
Interviews, and MarketsandMarkets Analysis

28
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RELATED REPORTS
Report Title Description
1
Next Generation Sequencing (NGS) Market [Platforms (Illumina HiSeq, MiSeq, Life Technologies Ion
Proton/PGM, 454 Roche), Bioinformatics (RNA-Seq, ChIP-Seq), (Pyrosequencing, SBS, SMRT),
(Diagnostics, Personalized Medicine)] – Global Forecast to 2017
2
Gene Expression Analysis Market by Technology (DNA Microarray, Real-Time PCR, Next Generation
Sequencing), Consumables (DNA Chips, Reagents), Services (Gene Profiling, Bioinformatics, Data
Analysis Software) & Applications] - Global Forecast to 2018

29
BT 2646
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Whole Exome Sequencing (WES) is next-generation technology.