Short-Read Sequencing Market By Technology (Sequencing by Synthesis (SBS), Ion Semiconductor Sequencing, Sequencing by Ligation), By Product & Services (Instruments & Consumables, Software & Data Analysis, Services), By Application (Oncology, Rare & Genetic Diseases, Reproductive Health, Agriculture & Animal Research, Microbiology & Infectious Diseases), By End-User (Academic & Research Institutions, Pharmaceutical & Biotechnology Companies, Clinical & Diagnostic Laboratories); Global Insights & Forecast (2024 - 2030)

As per Intent Market Research, the Short-Read Sequencing Market was valued at USD 7.3 Billion in 2024-e and will surpass USD 14.3 Billion by 2030; growing at a CAGR of 11.9% during 2025 - 2030.

The short-read sequencing market is expanding rapidly, driven by its widespread adoption in clinical diagnostics, genomics research, and personalized medicine. This technology enables high-throughput DNA and RNA sequencing with high accuracy and cost efficiency, making it an essential tool in oncology, rare disease detection, and infectious disease research. Advances in bioinformatics, cloud-based data analysis, and automation are further enhancing the capabilities of short-read sequencing, allowing researchers and clinicians to process vast amounts of genomic data with improved speed and precision.

Sequencing by Synthesis (SBS) Segment Is Largest Due to Its High Accuracy and Dominance in the Market

Sequencing by Synthesis (SBS) is the largest technology segment in the short-read sequencing market, owing to its high accuracy, scalability, and widespread adoption. This method, primarily led by Illumina, is the backbone of most next-generation sequencing (NGS) platforms and is used extensively in clinical and research applications. SBS technology offers a cost-effective approach to sequencing large genomic datasets while maintaining high sensitivity. Continuous innovations in SBS chemistry, automation, and throughput enhancement have solidified its position as the dominant sequencing technology.

Services Segment Is Fastest Growing Due to Rising Demand for Outsourced Sequencing Solutions

The services segment is witnessing the fastest growth as academic institutions, hospitals, and pharmaceutical companies increasingly rely on outsourced sequencing and bioinformatics analysis. Many organizations prefer to leverage external service providers for whole-genome sequencing, transcriptomics, and specialized clinical applications to reduce costs and operational complexities. Service providers offer end-to-end solutions, including library preparation, sequencing, and advanced bioinformatics analysis, enabling researchers and clinicians to focus on interpretation rather than technical workflows. The growing demand for contract research and sequencing-as-a-service models is fueling this segment’s rapid expansion.

Oncology Segment Is Largest Due to Rising Use of Sequencing in Cancer Diagnostics and Research

Oncology is the largest application segment, as short-read sequencing plays a crucial role in identifying genetic mutations, tumor profiling, and guiding targeted cancer therapies. The increasing adoption of liquid biopsy techniques and companion diagnostics has further driven demand for sequencing-based solutions in oncology. Pharmaceutical companies and research institutions are leveraging NGS to develop personalized treatment strategies, detect minimal residual disease, and study tumor evolution. The push toward precision oncology and the integration of sequencing data into clinical decision-making are key factors driving growth in this segment.

Clinical & Diagnostic Laboratories Segment Is Fastest Growing Due to Expanding Use of Sequencing in Healthcare

The clinical & diagnostic laboratories segment is experiencing the fastest growth, fueled by the increasing adoption of sequencing technologies for genetic testing, infectious disease diagnostics, and reproductive health screening. The rise in non-invasive prenatal testing (NIPT) and the growing use of NGS in rare disease diagnosis are expanding the role of short-read sequencing in routine clinical settings. Additionally, regulatory approvals for sequencing-based diagnostic tests and insurance reimbursements are making these services more accessible to healthcare providers, accelerating the adoption of sequencing in clinical diagnostics.

North America Is Largest Market Due to Strong Research Infrastructure and High Adoption in Healthcare

North America dominates the short-read sequencing market, driven by a well-established genomics research ecosystem, high healthcare expenditure, and early adoption of advanced sequencing technologies. The presence of leading sequencing companies such as Illumina and Thermo Fisher Scientific, coupled with significant government funding for genomics research, has strengthened the region’s market position. Additionally, the growing application of NGS in clinical diagnostics, drug development, and precision medicine initiatives is fueling demand for short-read sequencing solutions across the region.

Leading Companies and Competitive Landscape

The short-read sequencing market is highly competitive, with key players including Illumina, Thermo Fisher Scientific, BGI Genomics, Agilent Technologies, and Oxford Nanopore Technologies. Companies are focusing on improving sequencing accuracy, reducing costs, and expanding clinical applications to maintain a competitive edge. Strategic collaborations between sequencing providers, pharmaceutical firms, and healthcare institutions are driving innovation in personalized medicine. Additionally, advancements in bioinformatics tools and AI-driven data analysis are enhancing the interpretation of sequencing data, further propelling market growth.

List of Leading Companies:

• Illumina, Inc.
• Thermo Fisher Scientific Inc.
• Pacific Biosciences of California, Inc.
• Oxford Nanopore Technologies
• QIAGEN N.V.
• Agilent Technologies, Inc.
• F. Hoffmann-La Roche Ltd.
• BGI Genomics Co., Ltd.
• Genapsys, Inc.
• PerkinElmer, Inc.
• Bio-Rad Laboratories, Inc.
• Takara Bio Inc.
• Eurofins Scientific
• Novogene Corporation
• GATC Biotech AG

Recent Developments:

• Illumina, Inc. launched an upgraded sequencing platform in February 2025 to improve short-read accuracy and speed.
• Thermo Fisher Scientific Inc. expanded its NGS reagent portfolio in January 2025 to enhance workflow efficiency.
• Pacific Biosciences of California, Inc. introduced a new sequencing chemistry in December 2024 to boost read quality.
• QIAGEN N.V. announced a strategic partnership in November 2024 to integrate short-read sequencing with clinical diagnostics.
• BGI Genomics Co., Ltd. unveiled a high-throughput sequencing service in October 2024 for large-scale genomic research.

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