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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 Growth & Trends
Global Whole Exome Sequencing Industry Growth and Trends Forecast to 2032
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.
According to APO Research, the global Whole Exome Sequencing market was valued at US$ million in 2026 and is projected to reach US$ million by 2032, implying a CAGR of xx% over 2026-2032.
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Report Scope
This report provides a structured, data-driven view of the global Whole Exome Sequencing market, combining harmonized quantitative metrics with targeted qualitative insight to support business and growth strategy, market positioning, and capital allocation.
The Whole Exome Sequencing market size, estimates, and forecasts are presented in terms of revenue (US$ million), with 2025 as the base year and historical and forecast data for 2021-2032. The report segments the global Whole Exome Sequencing market by Type, Application, region/country, and company, provides regional market sizes at the segment level, profiles the competitive landscape and key players and their market ranks, and reviews technology trends and new product developments relevant to Whole Exome Sequencing.
Key Companies & Market Share Insights
This section analyzes the strategies and performance of leading companies in the global Whole Exome Sequencing market, including portfolio focus, innovation and product development, mergers and acquisitions, collaborations, and geographic expansion used to sustain or enhance competitive positions. It also summarizes recent corporate developments and key financial indicators and provides global revenue and gross margin data by manufacturer for 2021-2026, enabling benchmarking of scale, profitability, and market share and supporting assessment of market concentration through indicators such as CR5 and CR10.
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
Russia
Spain
Netherlands
Switzerland
Sweden
Poland
Asia-Pacific
China
Japan
South Korea
India
Australia
Taiwan
Southeast Asia
South America
Brazil
Argentina
Chile
Middle East & Africa
Egypt
South Africa
Israel
Türkiye
GCC Countries
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 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: Introduces the report scope of the report, executive summary of global and regional market size and CAGR for the history and forecast period (2021-2025, 2026-2031). 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 2: Provides the analysis of various market segments by type, covering the market size and development potential of each market segment, to help readers find the blue ocean market in different market segments.
Chapter 3: Provides the analysis of various market segments by 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 4: Introduces the market dynamics, latest developments of the market, the driving factors and restrictive factors of the market, the challenges and risks faced by manufacturers in the industry, and the analysis of relevant policies in the industry.
Chapter 5: Detailed analysis of Whole Exome Sequencing companies' competitive landscape, revenue, market share and ranking, latest development plan, merger, and acquisition information, etc.
Chapter 6: Provides profiles of key players, introducing the basic situation of the main companies in the market in detail, including product introduction, revenue, recent development, etc.
Chapter 7, 8, 9, 10 and 11: North America, Europe, Asia Pacific, South America, Middle East & Africa, revenue by country.
Chapter 12: Concluding Insights 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 Market Overview
- 1.1 Product Definition
- 1.2 Global Market Growth Prospects
- 1.3 Global Whole Exome Sequencing Market Size Overview by Region 2021 VS 2025 VS 2032
- 1.4 Global Whole Exome Sequencing Market Size by Region (2021-2032)
- 1.4.1 Global Whole Exome Sequencing Market Size by Region (2021-2026)
- 1.4.2 Global Whole Exome Sequencing Market Size by Region (2027-2032)
- 1.5 Key Regions Whole Exome Sequencing Market Size (2021-2032)
- 1.5.1 North America Whole Exome Sequencing Market Size Growth Rate (2021-2032)
- 1.5.2 Europe Whole Exome Sequencing Market Size Growth Rate (2021-2032)
- 1.5.3 Asia-Pacific Whole Exome Sequencing Market Size Growth Rate (2021-2032)
- 1.5.4 South America Whole Exome Sequencing Market Size Growth Rate (2021-2032)
- 1.5.5 Middle East & Africa Whole Exome Sequencing Market Size Growth Rate (2021-2032)
2 Whole Exome Sequencing Market by Type
- 2.1 Type Introduction
- 2.1.1 Agilent HaloPlex
- 2.1.2 Agilent SureSelect
- 2.1.3 Agilent SureSelect QXT
- 2.1.4 Illumina TruSeq Exome
- 2.1.5 Roche Nimblegen SeqCap
- 2.1.6 MYcroarray MYbaits
- 2.2 Global Whole Exome Sequencing Market Size by Type
- 2.2.1 Global Whole Exome Sequencing Market Size Overview by Type (2021-2032)
- 2.2.2 Global Whole Exome Sequencing Historic Market Size Review by Type (2021-2026)
- 2.2.3 Global Whole Exome Sequencing Market Size Forecasted by Type (2027-2032)
- 2.3 Global Whole Exome Sequencing Market Size by Regions
- 2.3.1 North America Whole Exome Sequencing Market Size Breakdown by Type (2021-2026)
- 2.3.2 Europe Whole Exome Sequencing Market Size Breakdown by Type (2021-2026)
- 2.3.3 Asia-Pacific Whole Exome Sequencing Market Size Breakdown by Type (2021-2026)
- 2.3.4 South America Whole Exome Sequencing Market Size Breakdown by Type (2021-2026)
- 2.3.5 Middle East and Africa Whole Exome Sequencing Market Size Breakdown by Type (2021-2026)
3 Whole Exome Sequencing Market by Application
- 3.1 Type Introduction
- 3.1.1 Correlation Research of Normal Human
- 3.1.2 Mendelian Disease and Rare Syndrome Gene Discovery
- 3.1.3 The Research of Complex Diseases
- 3.1.4 Mouse Exome Sequencing
- 3.2 Global Whole Exome Sequencing Market Size by Application
- 3.2.1 Global Whole Exome Sequencing Market Size Overview by Application (2021-2032)
- 3.2.2 Global Whole Exome Sequencing Historic Market Size Review by Application (2021-2026)
- 3.2.3 Global Whole Exome Sequencing Market Size Forecasted by Application (2027-2032)
- 3.3 Global Whole Exome Sequencing Market Size by Regions
- 3.3.1 North America Whole Exome Sequencing Market Size Breakdown by Application (2021-2026)
- 3.3.2 Europe Whole Exome Sequencing Market Size Breakdown by Application (2021-2026)
- 3.3.3 Asia-Pacific Whole Exome Sequencing Market Size Breakdown by Application (2021-2026)
- 3.3.4 South America Whole Exome Sequencing Market Size Breakdown by Application (2021-2026)
- 3.3.5 Middle East and Africa Whole Exome Sequencing Market Size Breakdown by Application (2021-2026)
4 Global Market Dynamics
- 4.1 Whole Exome Sequencing Industry Trends
- 4.2 Whole Exome Sequencing Industry Drivers
- 4.3 Whole Exome Sequencing Industry Opportunities and Challenges
- 4.4 Whole Exome Sequencing Industry Restraints
5 Competitive Insights by Company
- 5.1 Global Top Players by Whole Exome Sequencing Revenue (2021-2026)
- 5.2 Global Whole Exome Sequencing Industry Company Ranking, 2024 VS 2025 VS 2026
- 5.3 Global Whole Exome Sequencing Key Company Headquarters & Area Served
- 5.4 Global Whole Exome Sequencing Company, Product Type & Application
- 5.5 Global Whole Exome Sequencing Company Commercialization Time
- 5.6 Market Competitive Analysis
- 5.6.1 Global Whole Exome Sequencing Market CR5 and HHI
- 5.6.2 Global Top 5 and 10 Whole Exome Sequencing Players Market Share by Revenue in 2025
- 5.6.3 2025 Whole Exome Sequencing Tier 1, Tier 2, and Tier 3
6 Company Profiles
- 6.1 Illumina
- 6.1.1 Illumina Company Information
- 6.1.2 Illumina Business Overview
- 6.1.3 Illumina Whole Exome Sequencing Revenue, Global Share and Gross Margin (2021-2026)
- 6.1.4 Illumina Whole Exome Sequencing Product Portfolio
- 6.1.5 Illumina Recent Developments
- 6.2 Thermo Fisher
- 6.2.1 Thermo Fisher Company Information
- 6.2.2 Thermo Fisher Business Overview
- 6.2.3 Thermo Fisher Whole Exome Sequencing Revenue, Global Share and Gross Margin (2021-2026)
- 6.2.4 Thermo Fisher Whole Exome Sequencing Product Portfolio
- 6.2.5 Thermo Fisher Recent Developments
- 6.3 Roche
- 6.3.1 Roche Company Information
- 6.3.2 Roche Business Overview
- 6.3.3 Roche Whole Exome Sequencing Revenue, Global Share and Gross Margin (2021-2026)
- 6.3.4 Roche Whole Exome Sequencing Product Portfolio
- 6.3.5 Roche Recent Developments
- 6.4 Angilent
- 6.4.1 Angilent Company Information
- 6.4.2 Angilent Business Overview
- 6.4.3 Angilent Whole Exome Sequencing Revenue, Global Share and Gross Margin (2021-2026)
- 6.4.4 Angilent Whole Exome Sequencing Product Portfolio
- 6.4.5 Angilent Recent Developments
- 6.5 Eurofins
- 6.5.1 Eurofins Company Information
- 6.5.2 Eurofins Business Overview
- 6.5.3 Eurofins Whole Exome Sequencing Revenue, Global Share and Gross Margin (2021-2026)
- 6.5.4 Eurofins Whole Exome Sequencing Product Portfolio
- 6.5.5 Eurofins Recent Developments
- 6.6 Sengenics
- 6.6.1 Sengenics Company Information
- 6.6.2 Sengenics Business Overview
- 6.6.3 Sengenics Whole Exome Sequencing Revenue, Global Share and Gross Margin (2021-2026)
- 6.6.4 Sengenics Whole Exome Sequencing Product Portfolio
- 6.6.5 Sengenics Recent Developments
- 6.7 Ambry
- 6.7.1 Ambry Company Information
- 6.7.2 Ambry Business Overview
- 6.7.3 Ambry Whole Exome Sequencing Revenue, Global Share and Gross Margin (2021-2026)
- 6.7.4 Ambry Whole Exome Sequencing Product Portfolio
- 6.7.5 Ambry Recent Developments
- 6.8 Macrogen
- 6.8.1 Macrogen Company Information
- 6.8.2 Macrogen Business Overview
- 6.8.3 Macrogen Whole Exome Sequencing Revenue, Global Share and Gross Margin (2021-2026)
- 6.8.4 Macrogen Whole Exome Sequencing Product Portfolio
- 6.8.5 Macrogen Recent Developments
- 6.9 BGI
- 6.9.1 BGI Company Information
- 6.9.2 BGI Business Overview
- 6.9.3 BGI Whole Exome Sequencing Revenue, Global Share and Gross Margin (2021-2026)
- 6.9.4 BGI Whole Exome Sequencing Product Portfolio
- 6.9.5 BGI Recent Developments
- 6.10 Novo Gene
- 6.10.1 Novo Gene Company Information
- 6.10.2 Novo Gene Business Overview
- 6.10.3 Novo Gene Whole Exome Sequencing Revenue, Global Share and Gross Margin (2021-2026)
- 6.10.4 Novo Gene Whole Exome Sequencing Product Portfolio
- 6.10.5 Novo Gene Recent Developments
7 North America
- 7.1 North America Whole Exome Sequencing Market Size Growth Rate (CAGR) by Country: 2021 VS 2025 VS 2032
- 7.2 North America Whole Exome Sequencing Market Size by Country (2021-2026)
- 7.3 North America Whole Exome Sequencing Market Size Forecast by Country (2027-2032)
8 Europe
- 8.1 Europe Whole Exome Sequencing Market Size Growth Rate (CAGR) by Country: 2021 VS 2025 VS 2032
- 8.2 Europe Whole Exome Sequencing Market Size by Country (2021-2026)
- 8.3 Europe Whole Exome Sequencing Market Size Forecast by Country (2027-2032)
9 Asia-Pacific
- 9.1 Asia-Pacific Whole Exome Sequencing Market Size Growth Rate (CAGR) by Country: 2021 VS 2025 VS 2032
- 9.2 Asia-Pacific Whole Exome Sequencing Market Size by Country (2021-2026)
- 9.3 Asia-Pacific Whole Exome Sequencing Market Size Forecast by Country (2027-2032)
10 South America
- 10.1 South America Whole Exome Sequencing Market Size Growth Rate (CAGR) by Country: 2021 VS 2025 VS 2032
- 10.2 South America Whole Exome Sequencing Market Size by Country (2021-2026)
- 10.3 South America Whole Exome Sequencing Market Size Forecast by Country (2027-2032)
11 Middle East & Africa
- 11.1 Middle East & Africa Whole Exome Sequencing Market Size Growth Rate (CAGR) by Country: 2021 VS 2025 VS 2032
- 11.2 Middle East & Africa Whole Exome Sequencing Market Size by Country (2021-2026)
- 11.3 Middle East & Africa Whole Exome Sequencing Market Size Forecast by Country (2027-2032)
12 Concluding Insights
13 Appendix
- 13.1 Reasons for Doing This Study
- 13.2 Research Methodology
- 13.3 Research Process
- 13.4 Authors List of This Report
- 13.5 Data Source
- 13.5.1 Secondary Sources
- 13.5.2 Primary Sources
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