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%.
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
- 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.
- 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.
- 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.
- This report stays updated with novel technology integration, features, and the latest developments in the market
- This report helps stakeholders to gain insights into which regions to target globally
- This report helps stakeholders to gain insights into the end-user perception concerning the adoption of Whole Exome Sequencing.
- 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.
