Global Short-read Sequencing Market Growth, Share, Size, Trends and Forecast (2025 - 2031)

The global short-read sequencing market can be segmented based on technology, application, end-user, and region. Each segment plays a crucial role in shaping the market dynamics and growth trajectory.

The short-read sequencing market is primarily driven by advancements in sequencing technologies such as Illumina sequencing, ion semiconductor sequencing, and other emerging methods. Illumina sequencing dominates the market due to its high accuracy, scalability, and widespread adoption in research and clinical settings. Ion semiconductor sequencing is gaining traction for its rapid turnaround times and cost-effectiveness, particularly in targeted sequencing applications. Continuous innovations in these technologies are enhancing throughput, reducing costs, and expanding their applicability across various fields.

Applications of short-read sequencing span across a wide range of fields, including clinical diagnostics, research, and agriculture. In clinical diagnostics, short-read sequencing is extensively used for cancer genomics, genetic disorder screening, and infectious disease diagnosis, driving personalized medicine initiatives. In research, it supports diverse studies in genomics, transcriptomics, and epigenomics, providing insights into genetic variations and regulatory mechanisms. The agricultural sector utilizes short-read sequencing for crop improvement, disease resistance, and animal breeding programs, contributing to food security and sustainable farming practices.The market is segmented by end-users into academic and research institutions, pharmaceutical and biotechnology companies, healthcare providers, and agricultural organizations. Academic and research institutions represent a significant share of the market due to the extensive use of short-read sequencing in basic and applied research. Pharmaceutical and biotechnology companies leverage sequencing for drug discovery, development, and precision medicine initiatives. Healthcare providers utilize sequencing for diagnostic and therapeutic purposes, while agricultural organizations employ it for genomic selection and breeding.

The short-read sequencing market is segmented into North America, Europe, Asia-Pacific, Latin America, and the Middle East & Africa. North America holds a substantial market share, driven by robust research infrastructure, significant healthcare spending, and early adoption of advanced genomic technologies. Europe follows closely, with strong government support for genomics research and healthcare initiatives. The Asia-Pacific region is witnessing rapid growth due to increasing investments in research and healthcare, expanding biotechnology industries, and rising awareness about the benefits of genomics. Latin America and the Middle East & Africa are emerging markets, gradually adopting sequencing technologies to address healthcare and agricultural challenges.Understanding these segments helps stakeholders identify growth opportunities, tailor strategies to specific market needs, and address regional challenges. The continued evolution of short-read sequencing technologies and their expanding applications are expected to drive sustained growth in the global market.

Global Short-read Sequencing Segment Analysis

In this report, the Global Short-read Sequencing Market has been segmented by Technology, Workflow, Application, End Use, and Geography.

Global Short-read Sequencing Market, Segmentation by Technology

The Global Short-read Sequencing Market has been segmented by Technology into Next-Generation Sequencing and Sanger Sequencing.

Next-generation sequencing, often referred to as high-throughput sequencing, has revolutionized genomics by allowing for the rapid sequencing of large volumes of DNA. NGS technologies, such as Illumina and Ion Torrent, can sequence millions of DNA fragments simultaneously, providing comprehensive and detailed genetic information at unprecedented speed and scale. This capability is essential for large-scale genomics projects, clinical diagnostics, and personalized medicine. NGS is widely used for applications including whole-genome sequencing, exome sequencing, transcriptome analysis, and metagenomics. The high accuracy, efficiency, and decreasing costs of NGS have made it the dominant technology in the short-read sequencing market, driving significant growth and innovation.

Sanger sequencing, also known as first-generation sequencing, is a well-established method that has been the gold standard in DNA sequencing for several decades. Although it produces longer read lengths compared to NGS, Sanger sequencing is slower and less scalable, making it less suitable for large-scale genomic studies. However, it remains valuable for specific applications that require high precision and reliability, such as small-scale sequencing projects, validation of NGS results, and sequencing of individual genes or small regions of interest. Sanger sequencing is often used in clinical diagnostics, genetic testing, and forensic analysis due to its accuracy and robustness.

Both NGS and Sanger sequencing play critical roles in the short-read sequencing market, complementing each other in various applications. NGS drives the market's expansion by enabling comprehensive and large-scale genomic analyses, while Sanger sequencing provides a reliable and precise tool for targeted sequencing tasks. The choice between these technologies depends on the specific requirements of the project, including the scale, complexity, and desired outcomes.

Global Short-read Sequencing Market, Segmentation by Workflow

The Global Short-read Sequencing Market has been segmented by Workflow into Pre-Sequencing, Sequencing, Data Analysis.

In the global short-read sequencing market, the workflow segmentation plays a crucial role in driving innovation and progress. The pre-sequencing stage is vital as it includes critical steps such as sample preparation and quality control. During this stage, samples are purified, fragmented, and prepared to ensure they are suitable for high-quality sequencing. As precision and accuracy in sequencing become increasingly important, the pre-sequencing stage has seen continuous advancements in technologies that streamline and improve the overall quality of sequencing results.

The sequencing stage is where the core work of short-read sequencing occurs, involving the actual process of reading the DNA or RNA sequences. This is achieved through various technologies such as Illumina’s sequencing-by-synthesis platform. This stage’s key drivers include increasing throughput, reducing costs, and improving accuracy, making it possible to handle more complex and diverse samples while producing reliable results. The sequencing process continues to evolve with innovations that allow for faster and more accurate reads, enabling researchers to study a broader range of biological questions.

Finally, the data analysis stage is a critical component of the sequencing workflow. This phase involves processing and interpreting the data generated during sequencing to draw meaningful conclusions. With advancements in bioinformatics, data analysis has become more sophisticated, enabling the detection of subtle genetic variations and improving the accuracy of disease diagnosis. The growing need for high-performance computing and advanced algorithms has further propelled this segment, helping researchers and clinicians make more informed decisions based on sequencing data.

Global Short-read Sequencing Market, Segmentation by Application

The Global Short-read Sequencing Market has been segmented by Application into Whole Genome Sequencing, Whole Exome Sequencing, Targeted Sequencing & Resequencing- (DNA-based, RNA-based), Others

In the global short-read sequencing market, application-based segmentation is essential for understanding the diverse areas where sequencing technologies are employed. Whole genome sequencing (WGS) represents one of the most comprehensive and widely used applications in genomic research. It enables researchers to analyze the entire genome of an organism, providing a deep understanding of genetic variation, disease associations, and evolutionary processes. The adoption of WGS is increasing in both clinical and research settings as it allows for the identification of rare genetic disorders and contributes to personalized medicine. As the cost of sequencing continues to decrease, WGS is expected to see broader usage in clinical diagnostics and population studies.

Whole exome sequencing (WES), another key application, focuses on sequencing only the protein-coding regions of the genome. This application is particularly valuable for identifying variants that are most likely to affect protein function and contribute to diseases. WES has gained significant traction in the study of genetic disorders, cancer genomics, and rare diseases due to its targeted approach. It offers a cost-effective alternative to whole genome sequencing while still providing high-quality, relevant data for research and clinical applications. WES can be employed in both discovery and diagnostic settings, with numerous studies demonstrating its effectiveness in uncovering disease-causing mutations.

Targeted sequencing and resequencing (both DNA-based and RNA-based) are pivotal in the study of specific genes or regions of interest. DNA-based targeted sequencing is widely used for applications such as detecting mutations in cancer-related genes, genetic testing for inherited conditions, and pharmacogenomics. RNA-based resequencing, on the other hand, focuses on the transcriptome, providing insights into gene expression, alternative splicing, and gene regulation. These targeted approaches allow researchers to study specific pathways or molecular mechanisms with greater sensitivity and precision. As a result, targeted sequencing and RNA resequencing are integral to both basic and applied genomics research, providing valuable insights into disease mechanisms and potential therapeutic targets.

Global Short-read Sequencing Market, Segmentation by End Use

The Global Short-read Sequencing Market has been segmented by End Use into Academic Research, Clinical Research, Hospitals & Clinics, Pharma & Biotech Entities and Other.

Academic and research institutions represent a significant segment in the short-read sequencing market. Universities and research centers utilize short-read sequencing to conduct fundamental research in genomics, transcriptomics, and epigenomics. These institutions often lead large-scale genomic projects, exploring genetic variations, evolutionary biology, and disease mechanisms. The accessibility and affordability of next-generation sequencing (NGS) technologies have empowered academic researchers to undertake comprehensive studies, driving innovation and expanding our understanding of genetics.Clinical research organizations and institutions use short-read sequencing to investigate the genetic basis of diseases and develop new diagnostic and therapeutic strategies. This segment focuses on translating genomic insights into clinical applications, including biomarker discovery, patient stratification, and the development of personalized medicine approaches. Short-read sequencing is instrumental in clinical trials, enabling the identification of genetic markers that predict treatment responses and disease progression, thereby enhancing the efficacy and safety of new medical interventions.

Hospitals and clinics employ short-read sequencing technologies for diagnostic purposes, offering genetic testing and screening services to patients. These healthcare providers use sequencing to diagnose genetic disorders, identify mutations associated with various diseases, and guide treatment decisions. The ability to provide precise genetic information helps clinicians develop personalized treatment plans, improving patient outcomes. Short-read sequencing is particularly valuable in oncology, where it aids in the detection and characterization of cancer-related genetic alterations.Pharmaceutical and biotechnology companies are key users of short-read sequencing in drug discovery and development. These entities leverage sequencing technologies to identify potential drug targets, understand disease mechanisms, and develop targeted therapies. Short-read sequencing supports the identification of genetic variations and biomarkers that can be used to design more effective drugs and personalized treatment regimens. By integrating genomic data into their R&D processes, pharma and biotech companies can accelerate the development of innovative therapies and enhance their competitiveness in the market.

Global Short-read Sequencing Market, Segmentation by Geography

In this report, the Global Short-read Sequencing Market has been segmented by Geography into five regions; North America, Europe, Asia Pacific, Middle East and Africa and Latin America.

Global Short-read Sequencing Market Share (%), by Geographical Region, 2024

As of the most recent data from the previous year, the global short-read sequencing market share by geographical region can be outlined as follows:

North America holds the largest share of the global short-read sequencing market, driven by significant investments in genomic research, robust healthcare infrastructure, and the presence of major biotechnology and pharmaceutical companies. The United States is a key contributor, benefiting from extensive funding for genomics projects, advanced technological adoption, and strong academic and research institutions. Canada's growing focus on precision medicine and genomics research also contributes to the region's dominant market position.Europe is the second-largest market for short-read sequencing, characterized by a well-established research ecosystem and supportive regulatory frameworks. Countries such as the United Kingdom, Germany, and France are leading contributors, with extensive government funding for genomics research and a strong emphasis on personalized medicine. The European Union's commitment to advancing genomic technologies and its collaboration on large-scale research projects, like the European 1+ Million Genomes Initiative, further bolsters the market.

The Asia-Pacific region is experiencing rapid growth in the short-read sequencing market, fueled by increasing investments in biotechnology, expanding healthcare infrastructure, and rising awareness of genomic applications. China and Japan are the primary drivers, with substantial government initiatives to promote genomic research and the development of precision medicine. India and South Korea are also emerging as significant players, leveraging their growing biotech sectors and enhancing their research capabilities.

Latin America represents a growing market for short-read sequencing, with countries such as Brazil, Mexico, and Argentina leading the charge. The region is benefiting from improving healthcare access, rising investments in research and development, and growing collaborations with international genomic research institutions. While the market is smaller compared to North America and Europe, the potential for growth is substantial as awareness and adoption of genomic technologies increase.The Middle East and Africa region is an emerging market for short-read sequencing, characterized by varying levels of adoption and investment. In the Middle East, countries like Saudi Arabia, the United Arab Emirates, and Israel are investing in genomic research and healthcare advancements, driving market growth. Africa's market, while still nascent, is beginning to develop with initiatives focused on understanding genetic diversity and addressing region-specific health challenges. The potential for expansion is significant as infrastructure improves and investment in genomics rises.

This report provides an in depth analysis of various factors that impact the dynamics of Global Short-read Sequencing Market. These factors include; Market Drivers, Restraints and Opportunities Analysis.

Drivers, Restraints and Opportunity Analysis

Drivers

• Advancements in Sequencing Technologies
• Increasing Applications in Clinical Diagnostics
• Rising Demand for Personalized Medicine

• Expanding Research and Development Activities - Expanding research and development (R&D) activities are a significant driver of growth in the global short-read sequencing market. As the field of genomics continues to evolve, there is an increasing emphasis on understanding the genetic basis of diseases, improving diagnostic tools, and developing targeted therapies. This has led to substantial investments in R&D by both public and private sectors.

  Academic institutions, research organizations, and biotechnology companies are at the forefront of these efforts, utilizing short-read sequencing to conduct in-depth genetic studies. These activities include large-scale genome projects, cancer genomics research, and studies on rare genetic disorders. The high accuracy and efficiency of short-read sequencing make it an indispensable tool for these complex analyses.

  The pharmaceutical industry is leveraging short-read sequencing in drug discovery and development. By identifying genetic mutations and biomarkers associated with diseases, companies can develop more effective and personalized treatments. This not only enhances the therapeutic outcomes but also reduces the time and cost associated with bringing new drugs to market.

  Government initiatives and funding programs also play a crucial role in promoting R&D activities. Many countries have launched national genomics projects aimed at advancing precision medicine and improving public health. These initiatives provide a significant boost to the short-read sequencing market by fostering innovation and encouraging the adoption of advanced genomic technologies.

Restraints

• High Initial Investment Costs
• Data Management and Storage Challenges
• Limited Skilled Workforce

• Regulatory and Ethical Concerns - Regulatory and ethical concerns present significant challenges to the growth of the global short-read sequencing market. The regulatory landscape for genomic technologies is complex and varies widely across different countries, affecting the development, approval, and commercialization of short-read sequencing platforms and associated products.

  In many regions, stringent regulatory requirements necessitate extensive clinical validation and compliance with safety standards before new sequencing technologies can be approved for clinical use. These processes can be time-consuming and costly, potentially delaying the introduction of innovative sequencing solutions to the market. Additionally, the lack of harmonization in regulatory frameworks across different jurisdictions can complicate global market entry strategies for companies, requiring them to navigate diverse regulatory landscapes and adapt to varying compliance requirements.

  Ethical concerns also play a crucial role in the deployment and adoption of short-read sequencing technologies. Issues related to patient privacy, data security, and informed consent are paramount, as sequencing involves the collection and analysis of sensitive genetic information. Ensuring that patient data is protected and used ethically is essential to maintaining public trust and acceptance of genomic technologies. Breaches of data security or misuse of genetic information can lead to significant ethical and legal repercussions, potentially undermining the market's credibility.

Opportunity

• Development of Cost-effective Sequencing Solutions
• Expansion in Emerging Markets
• Integration with Artificial Intelligence and Big Data Analytics

• Collaborations and Partnerships in Genomic Research - Collaborations and partnerships in genomic research are pivotal for driving innovation and growth in the global short-read sequencing market. These alliances bring together diverse expertise and resources, facilitating advancements in genomic technologies and expanding the applications of short-read sequencing across various fields.

  Academic institutions, research organizations, and biotechnology companies are increasingly collaborating to leverage their collective strengths. These partnerships enable the sharing of knowledge, technologies, and data, accelerating the pace of discovery and development in genomics. For instance, large-scale genome sequencing projects often involve multiple institutions and researchers working together to decode complex genetic information, leading to significant breakthroughs in understanding diseases and genetic variations.

  Pharmaceutical companies also play a crucial role in these collaborations. By partnering with genomic research organizations, they can access cutting-edge sequencing technologies and genetic insights that are crucial for drug discovery and development. These collaborations help identify genetic markers associated with diseases, paving the way for the development of targeted therapies and personalized medicine approaches. Such partnerships can significantly reduce the time and cost involved in bringing new drugs to market, enhancing therapeutic outcomes and patient care.

  Government agencies and public health organizations are also key stakeholders in collaborative efforts. National and international initiatives, such as the Human Genome Project and the 100,000 Genomes Project, demonstrate the power of collaborative research in achieving large-scale genomic advancements. These initiatives provide valuable data and infrastructure that benefit the entire genomic research community, fostering further innovation and application of short-read sequencing technologies.

Key players in Global Short-read Sequencing Market include :

• Thermo Fisher Scientific
• F. Hoffmann-La Roche AG
• Illumina
• Genewiz
• Genscript Biotech Corporation
• 10x Genomics
• Qiagen
• Agilent Technologies
• BGI Genomics
• Fasteris SA

In this report, the profile of each market player provides following information:

• Company Overview and Product Portfolio
• Key Developments
• Financial Overview
• Strategies
• Company SWOT Analysis