APO RESEARCH · REPORT
Whole Exome Sequencing
Exome sequencing is a capture based method developed to identify variants in the coding region of genes which affect protein function. While exome capture methods using PCR, hybrid capture and molecular inversion probes exist, the most common and efficient strategies are in-solution capture methods. In-solution capture utilizes pools of oligonucleotides or probes bound to magnetic beads, whose sequence has been designed to hybridize to exon regions. After binding to genomic DNA, these probes are pulled down and washed, allowing exon regions to be selectively sequenced.
Product & engineering
Understand the product.
Exome sequencing is a capture based method developed to identify variants in the coding region of genes which affect protein function. While exome capture methods using PCR, hybrid capture and molecular inversion probes exist, the most common and efficient strategies are in-solution capture methods. In-solution capture utilizes pools of oligonucleotides or probes bound to magnetic beads, whose sequence has been designed to hybridize to exon regions. After binding to genomic DNA, these probes are pulled down and washed, allowing exon regions to be selectively sequenced.
While there are approximately 180,000 exons in the human genome, constituting less than 2% of total sequence, the exome contains ~80-90% of known disease causing variants making it a cost-effective alternative to whole genome sequencing. When performing exome-seq, users should not only consider average on-target coverage but also the local coverage of particular sites of interest. When choosing between exome and whole genome sequencing (WGS), consider that exome sequencing has the advantage that oligonucleotides are designed to particular genomic regions where typical coverage with WGS is not enough for SNP calling. It is also more affordable enabling the analysis of more individuals and populations. With WGS, you can detect variants in regions not covered by exome capture allowing or the identification of structural and non-coding variants associated with disease.
Selected research
Industry Research
Whole Exome Sequencing Industry Research Report 2026
Market perspective
Exome sequencing is a capture based method developed to identify variants in the coding region of genes which affect protein function. While exome capture methods using PCR, hybrid capture and molecular inversion probes exist, the most common and efficient strategies are in-solution capture methods. In-solution capture utilizes pools of oligonucleotides or probes bound to magnetic beads, whose sequence has been designed to hybridize to exon regions. After binding to genomic DNA, these probes are pulled down and washed, allowing exon regions to be selectively sequenced.
While there are approximately 180,000 exons in the human genome, constituting less than 2% of total sequence, the exome contains ~80-90% of known disease causing variants making it a cost-effective alternative to whole genome sequencing. When performing exome-seq, users should not only consider average on-target coverage but also the local coverage of particular sites of interest. When choosing between exome and whole genome sequencing (WGS), consider that exome sequencing has the advantage that oligonucleotides are designed to particular genomic regions where typical coverage with WGS is not enough for SNP calling. It is also more affordable enabling the analysis of more individuals and populations. With WGS, you can detect variants in regions not covered by exome capture allowing or the identification of structural and non-coding variants associated with disease.
The major players in global Whole Exome Sequencing market include Illumina, Thermofisher, Roche, etc. The top 3 players occupy about 45% shares of the global market. North America and Europe are main markets, they occupy about 70% of the global market. Illumina TruSeq Exome and Roche Nimblegen SeqCap are main types, with a share about 55%. Mendelian Disease and Rare Syndrome Gene Discovery are the main application, which hold a share about 40%.
Read the full market overview
Report Scope
This report quantifies the global Whole Exome Sequencing market in terms of revenue (US$ million) and, where applicable, service volume (Samples), using 2024 as the base year and providing annual historical and forecast data for 2021–2032.
It standardizes definitions of service Types and end-use Applications, harmonizes provider attribution, and delivers comparable time series by company, Type, Application, and region or country, including indicative price bands (US$/Samples) and concentration ratios (CR5/CR10). Outputs are intended to support service design, budgeting, capacity planning, and benchmarking for providers, platforms, channel partners, and investors; the report also reviews technology shifts and notable service innovations relevant to Whole Exome Sequencing.
Key Companies & Market Share Insights
This section profiles leading service providers with 2021–2025 results and a 2026–2032 outlook—covering revenue, market share, price bands, service portfolio and client mix, regional and channel mix, and key developments (M&A, network expansion, certifications). It also provides global revenue, average price, and—where applicable—volume metrics by provider, and calculates CR5/CR10 and rank changes to support comparative benchmarking.
Whole Exome Sequencing Market by Company
Illumina
Thermo Fisher
Roche
Angilent
Eurofins
Sengenics
Ambry
Macrogen
BGI
Novo Gene
Whole Exome Sequencing Segment by Type
Agilent HaloPlex
Agilent SureSelect
Agilent SureSelect QXT
Illumina TruSeq Exome
Roche Nimblegen SeqCap
MYcroarray MYbaits
Whole Exome Sequencing Segment by Application
Correlation Research of Normal Human
Mendelian Disease and Rare Syndrome Gene Discovery
The Research of Complex Diseases
Mouse Exome Sequencing
Whole Exome Sequencing Segment by Region
North America
United States
Canada
Mexico
Europe
Germany
France
U.K.
Italy
Spain
Russia
Netherlands
Nordic Countries
Asia-Pacific
China
Japan
South Korea
India
Australia
Taiwan
Southeast Asia
South America
Brazil
Argentina
Chile
Middle East & Africa
Saudi Arabia
Israel
United Arab Emirates
Turkey
Iran
Egypt
Key Drivers & Barriers
High-impact rendering factors and drivers have been studied in this report to aid the readers to understand the general development. Moreover, the report includes restraints and challenges that may act as stumbling blocks on the way of the players. This will assist the users to be attentive and make informed decisions related to business. Specialists have also laid their focus on the upcoming business prospects.
Reasons to Buy This Report
1. This report will help the readers to understand the competition within the industries and strategies for the competitive environment to enhance the potential profit. The report also focuses on the competitive landscape of the global Whole Exome Sequencing market, and introduces in detail the market share, industry ranking, competitor ecosystem, market performance, new product development, operation situation, expansion, and acquisition. etc. of the main players, which helps the readers to identify the main competitors and deeply understand the competition pattern of the market.
2. This report will help stakeholders to understand the global industry status and trends of Whole Exome Sequencing and provides them with information on key market drivers, restraints, challenges, and opportunities.
3. This report will help stakeholders to understand competitors better and gain more insights to strengthen their position in their businesses. The competitive landscape section includes the market share and rank (in volume and value), competitor ecosystem, new product development, expansion, and acquisition.
4. This report stays updated with novel technology integration, features, and the latest developments in the market
5. This report helps stakeholders to gain insights into which regions to target globally
6. This report helps stakeholders to gain insights into the end-user perception concerning the adoption of Whole Exome Sequencing.
7. This report helps stakeholders to identify some of the key players in the market and understand their valuable contribution.
Chapter Outline
Chapter 1: Research objectives, research methods, data sources, data cross-validation;
Chapter 2: Introduces the report scope of the report, executive summary of different market segments (product type, application, etc), including the market size of each market segment, future development potential, and so on. It offers a high-level view of the current state of the market and its likely evolution in the short to mid-term, and long term.
Chapter 3: Provides the analysis of various market segments product types, covering the market size and development potential of each market segment, to help readers find the blue ocean market in different market segments.
Chapter 4: Provides the analysis of various market segments application, covering the market size and development potential of each market segment, to help readers find the blue ocean market in different downstream markets.
Chapter 5: Introduces executive summary of global market size, regional market size, this section also introduces the market dynamics, latest developments of the market, the driving factors and restrictive factors of the market, the challenges and risks faced by companies in the industry, and the analysis of relevant policies in the industry.
Chapter 6: Detailed analysis of Whole Exome Sequencing companies’ competitive landscape, revenue market share, latest development plan, merger, and acquisition information, etc.
Chapter 7, 8, 9, 10, 11: North America, Europe, Asia Pacific, South America, Middle East and Africa segment by country. It provides a quantitative analysis of the market size and development potential of each region and its main countries and introduces the market development, future development prospects, market space, and capacity of each country in the world.
Chapter 12: Provides profiles of key players, introducing the basic situation of the main companies in the market in detail, including revenue, gross margin, product introduction, recent development, etc.
Chapter 13: The main points and conclusions of the report.
More report detail
Tables and figures
Scope & coverage.
Types
- Agilent HaloPlex
- Agilent SureSelect
- Agilent SureSelect QXT
- Illumina TruSeq Exome
- Roche Nimblegen SeqCap
- MYcroarray MYbaits
Applications
- Correlation Research of Normal Human
- Mendelian Disease and Rare Syndrome Gene Discovery
- The Research of Complex Diseases
- Mouse Exome Sequencing
Companies covered
- Illumina
- Thermo Fisher
- Roche
- Angilent
- Eurofins
- Sengenics
- Ambry
- Macrogen
- BGI
- Novo Gene
Inside the report.
1 Preface
- 1.1 Scope of Report
- 1.2 Reasons for Doing This Study
- 1.3 Research Methodology
- 1.4 Research Process
- 1.5 Data Source
- 1.5.1 Secondary Sources
- 1.5.2 Primary Sources
2 Market Overview
- 2.1 Product Definition
- 2.2 Whole Exome Sequencing by Type
- 2.2.1 Market Value Comparison by Type (2021 VS 2025 VS 2032)
- 2.2.2 Agilent HaloPlex
- 2.2.3 Agilent SureSelect
- 2.2.4 Agilent SureSelect QXT
- 2.2.5 Illumina TruSeq Exome
- 2.2.6 Roche Nimblegen SeqCap
- 2.2.7 MYcroarray MYbaits
- 2.3 Whole Exome Sequencing by Application
- 2.3.1 Market Value Comparison by Application (2021 VS 2025 VS 2032)
- 2.3.2 Correlation Research of Normal Human
- 2.3.3 Mendelian Disease and Rare Syndrome Gene Discovery
- 2.3.4 The Research of Complex Diseases
- 2.3.5 Mouse Exome Sequencing
- 2.4 Assumptions and Limitations
3 Whole Exome Sequencing Breakdown Data by Type
- 3.1 Global Whole Exome Sequencing Historic Market Size by Type (2021-2026)
- 3.2 Global Whole Exome Sequencing Forecasted Market Size by Type (2027-2032)
4 Whole Exome Sequencing Breakdown Data by Application
- 4.1 Global Whole Exome Sequencing Historic Market Size by Application (2021-2026)
- 4.2 Global Whole Exome Sequencing Forecasted Market Size by Application (2027-2032)
5 Global Growth Trends
- 5.1 Global Whole Exome Sequencing Market Perspective (2021-2032)
- 5.2 Global Whole Exome Sequencing Growth Trends by Region
- 5.2.1 Global Whole Exome Sequencing Market Size by Region: 2021 VS 2025 VS 2032
- 5.2.2 Whole Exome Sequencing Historic Market Size by Region (2021-2026)
- 5.2.3 Whole Exome Sequencing Forecasted Market Size by Region (2027-2032)
- 5.3 Whole Exome Sequencing Market Dynamics
- 5.3.1 Whole Exome Sequencing Industry Trends
- 5.3.2 Whole Exome Sequencing Market Drivers
- 5.3.3 Whole Exome Sequencing Market Challenges
- 5.3.4 Whole Exome Sequencing Market Restraints
6 Market Competitive Landscape by Players
- 6.1 Global Top Whole Exome Sequencing Players by Revenue
- 6.1.1 Global Top Whole Exome Sequencing Players by Revenue (2021-2026)
- 6.1.2 Global Whole Exome Sequencing Revenue Market Share by Players (2021-2026)
- 6.2 Global Whole Exome Sequencing Industry Players Ranking, 2023 VS 2024 VS 2025
- 6.3 Global Key Players of Whole Exome Sequencing Head Office and Area Served
- 6.4 Global Whole Exome Sequencing Players, Product Type & Application
- 6.5 Global Whole Exome Sequencing Manufacturers Established Date
- 6.6 Global Whole Exome Sequencing Market CR5 and HHI
- 6.7 Global Players Mergers & Acquisition
7 North America
- 7.1 North America Whole Exome Sequencing Market Size (2021-2032)
- 7.2 North America Whole Exome Sequencing Market Growth Rate by Country: 2021 VS 2025 VS 2032
- 7.3 North America Whole Exome Sequencing Market Size by Country (2021-2026)
- 7.4 North America Whole Exome Sequencing Market Size by Country (2027-2032)
- 7.5 United States
- 7.5 United States
- 7.6 Canada
- 7.7 Mexico
8 Europe
- 8.1 Europe Whole Exome Sequencing Market Size (2021-2032)
- 8.2 Europe Whole Exome Sequencing Market Growth Rate by Country: 2021 VS 2025 VS 2032
- 8.3 Europe Whole Exome Sequencing Market Size by Country (2021-2026)
- 8.4 Europe Whole Exome Sequencing Market Size by Country (2027-2032)
- 8.5 Germany
- 8.6 France
- 8.7 U.K.
- 8.8 Italy
- 8.9 Spain
- 8.10 Russia
- 8.11 Netherlands
- 8.12 Nordic Countries
9 Asia-Pacific
- 9.1 Asia-Pacific Whole Exome Sequencing Market Size (2021-2032)
- 9.2 Asia-Pacific Whole Exome Sequencing Market Growth Rate by Country: 2021 VS 2025 VS 2032
- 9.3 Asia-Pacific Whole Exome Sequencing Market Size by Country (2021-2026)
- 9.4 Asia-Pacific Whole Exome Sequencing Market Size by Country (2027-2032)
- 9.5 China
- 9.6 Japan
- 9.7 South Korea
- 9.8 India
- 9.9 Australia
- 9.10 China Taiwan
- 9.11 Southeast Asia
10 South America
- 10.1 South America Whole Exome Sequencing Market Size (2021-2032)
- 10.2 South America Whole Exome Sequencing Market Growth Rate by Country: 2021 VS 2025 VS 2032
- 10.3 South America Whole Exome Sequencing Market Size by Country (2021-2026)
- 10.4 South America Whole Exome Sequencing Market Size by Country (2027-2032)
- 10.5 Brazil
- 10.6 Argentina
- 10.7 Chile
- 10.8 Colombia
- 10.9 Peru
11 Middle East & Africa
- 11.1 Middle East & Africa Whole Exome Sequencing Market Size (2021-2032)
- 11.2 Middle East & Africa Whole Exome Sequencing Market Growth Rate by Country: 2021 VS 2025 VS 2032
- 11.3 Middle East & Africa Whole Exome Sequencing Market Size by Country (2021-2026)
- 11.4 Middle East & Africa Whole Exome Sequencing Market Size by Country (2027-2032)
- 11.5 Saudi Arabia
- 11.6 Israel
- 11.7 United Arab Emirates
- 11.8 Turkey
- 11.9 Iran
- 11.10 Egypt
12 Players Profiled
- 12.1 Illumina
- 12.1.1 Illumina Company Information
- 12.1.2 Illumina Business Overview
- 12.1.3 Illumina Revenue in Whole Exome Sequencing Business (2021-2026)
- 12.1.4 Illumina Whole Exome Sequencing Product Portfolio
- 12.1.5 Illumina Recent Developments
- 12.2 Thermo Fisher
- 12.2.1 Thermo Fisher Company Information
- 12.2.2 Thermo Fisher Business Overview
- 12.2.3 Thermo Fisher Revenue in Whole Exome Sequencing Business (2021-2026)
- 12.2.4 Thermo Fisher Whole Exome Sequencing Product Portfolio
- 12.2.5 Thermo Fisher Recent Developments
- 12.3 Roche
- 12.3.1 Roche Company Information
- 12.3.2 Roche Business Overview
- 12.3.3 Roche Revenue in Whole Exome Sequencing Business (2021-2026)
- 12.3.4 Roche Whole Exome Sequencing Product Portfolio
- 12.3.5 Roche Recent Developments
- 12.4 Angilent
- 12.4.1 Angilent Company Information
- 12.4.2 Angilent Business Overview
- 12.4.3 Angilent Revenue in Whole Exome Sequencing Business (2021-2026)
- 12.4.4 Angilent Whole Exome Sequencing Product Portfolio
- 12.4.5 Angilent Recent Developments
- 12.5 Eurofins
- 12.5.1 Eurofins Company Information
- 12.5.2 Eurofins Business Overview
- 12.5.3 Eurofins Revenue in Whole Exome Sequencing Business (2021-2026)
- 12.5.4 Eurofins Whole Exome Sequencing Product Portfolio
- 12.5.5 Eurofins Recent Developments
- 12.6 Sengenics
- 12.6.1 Sengenics Company Information
- 12.6.2 Sengenics Business Overview
- 12.6.3 Sengenics Revenue in Whole Exome Sequencing Business (2021-2026)
- 12.6.4 Sengenics Whole Exome Sequencing Product Portfolio
- 12.6.5 Sengenics Recent Developments
- 12.7 Ambry
- 12.7.1 Ambry Company Information
- 12.7.2 Ambry Business Overview
- 12.7.3 Ambry Revenue in Whole Exome Sequencing Business (2021-2026)
- 12.7.4 Ambry Whole Exome Sequencing Product Portfolio
- 12.7.5 Ambry Recent Developments
- 12.8 Macrogen
- 12.8.1 Macrogen Company Information
- 12.8.2 Macrogen Business Overview
- 12.8.3 Macrogen Revenue in Whole Exome Sequencing Business (2021-2026)
- 12.8.4 Macrogen Whole Exome Sequencing Product Portfolio
- 12.8.5 Macrogen Recent Developments
- 12.9 BGI
- 12.9.1 BGI Company Information
- 12.9.2 BGI Business Overview
- 12.9.3 BGI Revenue in Whole Exome Sequencing Business (2021-2026)
- 12.9.4 BGI Whole Exome Sequencing Product Portfolio
- 12.9.5 BGI Recent Developments
- 12.10 Novo Gene
- 12.10.1 Novo Gene Company Information
- 12.10.2 Novo Gene Business Overview
- 12.10.3 Novo Gene Revenue in Whole Exome Sequencing Business (2021-2026)
- 12.10.4 Novo Gene Whole Exome Sequencing Product Portfolio
- 12.10.5 Novo Gene Recent Developments
13 Report Conclusion
14 Disclaimer
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