短读定序市场－全球产业规模、份额、趋势、机会及预测（依产品、应用、最终用户、地区及竞争格局划分，2021-2031年）

全球短读定序市场预计将从 2025 年的 70.3 亿美元成长到 2031 年的 113.7 亿美元，复合年增长率为 8.35%。

这种高通量调查方法通常产生75-300个碱基对的DNA序列，其价值在于能够以极高的准确度识别遗传变异。该领域的发展主要得益于定序成本的快速下降以及基因组数据在肿瘤学和罕见疾病诊断临床工作流程中的深度整合。近期监管趋势也支持对基因组分析在治疗选择中日益增长的依赖。例如，个人化医疗联盟报告称，到2024年，美国食品药物管理局（FDA）核准的新型治疗分子实体中，约有38%将是个人化药物。

儘管存在这些成长要素，但该产业在管理和解读现代定序平台产生的大量资料集方面仍面临着许多挑战。处理、储存和分析这些海量基因组资讯所需的大规模计算基础设施造成了生物资讯瓶颈。这个问题阻碍了原始数据快速转化为可操作的临床见解，并限制了该技术在资源匮乏环境中的广泛应用。

市场驱动因素

定序成本和每千兆碱基成本的持续下降是全球短读长定序市场的关键驱动力，有效地普及了高通量基因组数据的获取。这一价格下降趋势是由平台开发商之间的激烈竞争以及超高通量系统的引入所推动的，这些系统显着降低了全基因组分析的经济门槛。这种经济效益的提升使得临床检查室和研究机构能够在不增加预算的情况下，从标靶基因组分析过渡到全面的全基因组定序（WGS）。 Frontline Genomics 在 2025 年 3 月报导《百元基因组：极限在哪里？ 》就是这一趋势的一个显着例证，该文章报告 Ultima Genomics 已实现了 80 美元的基因组测序。这一价格水准远低于先前的基准，加速了常规临床定序的可行性。

在降低成本的同时，大规模人群基因组学计画的实施也带来了对短读长定序能力的空前需求，各国都在寻求从人群层面了解疾病感受性和遗传变异。这些大规模专案需要强大的平台，能够高速、准确地处理数十万个样本。例如，美国国立卫生研究院 (NIH) 于 2025 年 2 月宣布，其国家人群调查计画「我们所有人」(All of Us) 的基因组数据集已扩展至包含超过 41.4 万名参与者的全基因组序列。这种高通量定序活动的激增与产业收入直接相关。 Illumina 公司截至 2025 年 10 月的财年业绩便印证了这一点，该公司当季营收达 10.8 亿美元，证实了这种大规模基因组学需求正在产生持续的商业性影响。

市场挑战

大型资料集的管理与解读，即生物资讯瓶颈，仍是限制全球短读长定序市场成长的一大挑战。儘管基因组读段的物理生成过程已实现高通量、低成本，但下游的计算分析成本仍高成本，技术难度也极大。这种不平衡造成了工作流程瓶颈，数据生成速度超过了资讯处理和解读能力，从而有效地延缓了原始数据转化为可操作的临床报告。因此，缺乏足够计算基础设施的实验室无法应对如此庞大的数据量，阻碍了该技术在社区医院和其他资源匮乏环境中的广泛应用。

这种资料处理的复杂性对采用者构成了严重的营运障碍。困难不仅体现在储存容量上，也体现在所产生资讯的效用。根据皮斯托亚联盟（Pistoia Alliance）预测，到2024年，54%的生命科学专业人士会将非结构化资料视为有效利用实验结果的主要障碍。因此，与资料管理和生物资讯分析相关的高昂成本造成了市场摩擦，阻碍了短读定序技术在标准诊断流程中的广泛应用。

市场趋势

非侵入性肿瘤学中液态生物检体的广泛应用，从根本上改变了短读测序的需求结构，将临床关注点从基于组织的诊断转向基于血液的基因组分析。这一趋势的驱动力在于循环肿瘤DNA (ctDNA) 分析在治疗选择和微量残存疾病(MRD) 监测中日益增长的效用，而这需要高灵敏度的低频突变检测才能实现深度定序。与传统切片检查不同，这些非侵入性检测能够对肿瘤的长期演变进行频繁监测，从而持续提升临床检查室的定序通量需求。这种转变的商业性影响在诊断服务提供者的快速扩张中显而易见。例如，Guardant Health 报告称，截至2025年2月，其营收为7.39亿美元，年增31%，这主要得益于临床肿瘤检测量增加20%。

同时，市场正向空间基因体学与多体学整合方向发展，超越了传统的DNA批量分析，旨在捕捉基因组结构与细胞组织之间复杂的相互作用。这一趋势融合了次世代定序、高解析度成像和蛋白质分析技术，使研究人员能够绘製活体组织环境中的基因表现和细胞表型图谱。这种整合对于理解肿瘤微环境和免疫反应尤其重要，需要能够同时处理基因组和蛋白质组数据的先进平台。创新者们正在迅速部署系统以满足这一复杂的需求。例如，Element Biosciences公司于2025年7月宣布，其旗舰产品AVITI24 5D多组体学系统在商业化发布仅七个月后，全球安装量已超过50台。

目录

第一章概述

第二章调查方法

第三章执行摘要

第四章：客户评价

第五章 全球短读定序市场展望

• 市场规模及预测
  • 按金额
• 市占率及预测
  • 依产品（设备、耗材、服务）分类
  • 按应用领域（全基因组定序、全EXOME定序、标靶定序和重定序等）
  • 按最终用户（学术/研究机构、医院/诊所、製药/生技公司、其他）
  • 按地区
  • 按公司（2025 年）
• 市场地图

6. 北美短读长定序市场展望

• 市场规模及预测
• 市占率及预测
• 北美洲：国家分析
  • 我们
  • 加拿大
  • 墨西哥

7. 欧洲短读长定序市场展望

• 市场规模及预测
• 市占率及预测
• 欧洲：国家分析
  • 德国
  • 法国
  • 英国
  • 义大利
  • 西班牙

8. 亚太地区短读长定序市场展望

• 市场规模及预测
• 市占率及预测
• 亚太地区：国家分析
  • 中国
  • 印度
  • 日本
  • 韩国
  • 澳洲

9. 中东和非洲短读定序市场展望

• 市场规模及预测
• 市占率及预测
• 中东和非洲：国家分析
  • 沙乌地阿拉伯
  • 阿拉伯聯合大公国
  • 南非

10. 南美洲短读长定序市场展望

• 市场规模及预测
• 市占率及预测
• 南美洲：国家分析
  • 巴西
  • 哥伦比亚
  • 阿根廷

第十一章 市场动态

• 司机
• 任务

第十二章 市场趋势与发展

• 併购
• 产品发布
• 最新进展

第十三章 全球短读长定序市场：SWOT分析

第十四章 波特五力分析

• 产业竞争
• 新进入者的可能性
• 供应商电力
• 顾客权力
• 替代品的威胁

第十五章 竞争格局

• Illumina, Inc.
• Invitae Corporation
• Thermo Fisher Scientific, Inc.
• Pacific Biosciences of California, Inc.
• BGI Genomics Co., Ltd
• QIAGEN NV
• Agilent Technologies, Inc.
• Azenta US, Inc.
• PerkinElmer, Inc.
• ProPhase Labs, Inc.

第十六章 策略建议

第十七章：关于研究公司及免责声明

The Global Short-Read Sequencing Market is projected to expand from USD 7.03 Billion in 2025 to USD 11.37 Billion by 2031, reflecting a CAGR of 8.35%. This high-throughput methodology, which produces DNA reads typically between 75 and 300 base pairs, is prized for its ability to identify genetic variants with exceptional accuracy. Growth in this sector is primarily fueled by the precipitous decline in sequencing costs and the deepening integration of genomic data into clinical workflows for oncology and rare disease diagnostics. Recent regulatory trends underscore this increasing reliance on genomic profiling for treatment selection; for instance, the Personalized Medicine Coalition reported that personalized medicines comprised approximately 38 percent of new therapeutic molecular entities approved by the Food and Drug Administration in 2024.

Despite these positive growth drivers, the industry faces a significant impediment regarding the management and interpretation of the massive datasets produced by modern sequencing platforms. The extensive computational infrastructure needed to process, store, and analyze these vast volumes of genomic information creates a bioinformatic bottleneck. This issue complicates the rapid translation of raw data into actionable clinical insights and limits the technology's broader adoption in environments constrained by limited resources.

Market Driver

The persistent decline in sequencing costs and per-gigabase expenses acts as a primary catalyst for the Global Short-Read Sequencing Market, effectively democratizing access to high-throughput genomic data. This downward pricing trajectory is driven by fierce competition among platform developers and the introduction of ultra-high-throughput systems that significantly reduce the financial barrier for whole-genome analysis. Such economic efficiency allows clinical laboratories and research institutions to transition from targeted panels to comprehensive whole-genome sequencing (WGS) without increasing their budgets. Highlighting this trend, Frontline Genomics reported in a March 2025 article titled 'The $100 Genome: Where's the Limit?' that Ultima Genomics achieved an $80 genome, a price point that substantially undercuts historical benchmarks and accelerates the feasibility of routine clinical sequencing.

Concurrent with these cost reductions, the implementation of large-scale population genomics programs is generating unprecedented demand for short-read sequencing capacity as nations aim to characterize disease susceptibility and genetic diversity at a population level. These massive initiatives require robust platforms capable of processing hundreds of thousands of samples with high speed and accuracy. For example, the National Institutes of Health announced in February 2025 that the All of Us Research Program had expanded its genomic dataset to include whole genome sequences from over 414,000 participants. This surge in high-volume sequencing activity directly translates into substantial industrial revenue, as evidenced by Illumina's October 2025 financial report, which announced quarterly revenue of $1.08 billion, underscoring the sustained commercial impact of these large-scale genomic demands.

Market Challenge

The management and interpretation of massive datasets, often termed the bioinformatic bottleneck, stands as a critical challenge inhibiting the growth of the Global Short-Read Sequencing Market. While the physical process of generating genomic reads has achieved high throughput at lower costs, downstream computational analysis remains disproportionately expensive and technically demanding. This disparity creates a workflow paralysis where data production outpaces the capacity to process and interpret the information, effectively delaying the translation of raw DNA sequences into actionable clinical reports. Consequently, laboratories lacking substantial computational infrastructure struggle to handle this influx of data, which restricts the technology's expansion into community hospitals and resource-constrained settings.

This complexity in data handling creates a severe operational barrier that deters potential adopters who cannot afford the necessary specialized IT resources. The difficulty lies not only in storage volume but also in the usability of the generated information. According to the Pistoia Alliance, 54 percent of life science professionals in 2024 cited unstructured data as a primary barrier to utilizing experimental findings effectively. As a result, the market experiences friction as the high indirect costs associated with data curation and bioinformatic analysis discourage the broader integration of short-read sequencing into standard diagnostic procedures.

Market Trends

The proliferation of liquid biopsy for non-invasive oncology is fundamentally altering the demand landscape for short-read sequencing by shifting clinical focus from tissue-based diagnostics to blood-based genomic profiling. This trend is driven by the increasing utility of circulating tumor DNA (ctDNA) analysis for therapy selection and minimal residual disease (MRD) monitoring, which requires deep sequencing coverage to detect low-frequency variants with high sensitivity. Unlike traditional biopsies, these non-invasive assays allow for frequent longitudinal monitoring of tumor evolution, thereby creating a sustained stream of sequencing throughput requirements for clinical laboratories. The commercial impact of this shift is evident in the rapid scaling of diagnostic providers; for instance, Guardant Health reported a 31 percent year-over-year revenue increase to $739 million in February 2025, supported by a 20 percent growth in clinical oncology test volumes.

Simultaneously, the market is expanding into spatial genomics and multi-omics integration, moving beyond bulk DNA analysis to capture the complex interplay between genomic architecture and cellular organization. This trend involves the convergence of next-generation sequencing with high-resolution imaging and protein analysis, allowing researchers to map gene expression and cellular phenotypes within their native tissue context. This integration is particularly critical for understanding tumor microenvironments and immune responses, necessitating advanced platforms that can simultaneously process genomic and proteomic data. Innovators are rapidly deploying systems to meet this complex demand; for example, Element Biosciences announced in July 2025 that it had installed over 50 units of its flagship AVITI24 5D Multiomic System globally within just seven months of its commercial launch.

Key Market Players

• Illumina, Inc.
• Invitae Corporation
• Thermo Fisher Scientific, Inc.
• Pacific Biosciences of California, Inc.
• BGI Genomics Co., Ltd
• QIAGEN NV
• Agilent Technologies, Inc.
• Azenta US, Inc.
• PerkinElmer, Inc.
• ProPhase Labs, Inc.

Report Scope

In this report, the Global Short-Read Sequencing Market has been segmented into the following categories, in addition to the industry trends which have also been detailed below:

Short-Read Sequencing Market, By Product

• Instruments
• Consumables
• Services

Short-Read Sequencing Market, By Application

• Whole Genome Sequencing
• Whole Exome Sequencing
• Targeted Sequencing & Resequencing
• Others

Short-Read Sequencing Market, By End User

• Academic & Research Institutes
• Hospitals & Clinics
• Pharmaceutical & Biotechnology Companies
• Others

Short-Read Sequencing Market, By Region

• North America
  • United States
  • Canada
  • Mexico
• Europe
  • France
  • United Kingdom
  • Italy
  • Germany
  • Spain
• Asia Pacific
  • China
  • India
  • Japan
  • Australia
  • South Korea
• South America
  • Brazil
  • Argentina
  • Colombia
• Middle East & Africa
  • South Africa
  • Saudi Arabia
  • UAE

Competitive Landscape

Company Profiles: Detailed analysis of the major companies present in the Global Short-Read Sequencing Market.

Available Customizations:

Global Short-Read Sequencing Market report with the given market data, TechSci Research offers customizations according to a company's specific needs. The following customization options are available for the report:

Company Information

• Detailed analysis and profiling of additional market players (up to five).

Table of Contents

1. Product Overview

• 1.1. Market Definition
• 1.2. Scope of the Market
  • 1.2.1. Markets Covered
  • 1.2.2. Years Considered for Study
  • 1.2.3. Key Market Segmentations

2. Research Methodology

• 2.1. Objective of the Study
• 2.2. Baseline Methodology
• 2.3. Key Industry Partners
• 2.4. Major Association and Secondary Sources
• 2.5. Forecasting Methodology
• 2.6. Data Triangulation & Validation
• 2.7. Assumptions and Limitations

3. Executive Summary

• 3.1. Overview of the Market
• 3.2. Overview of Key Market Segmentations
• 3.3. Overview of Key Market Players
• 3.4. Overview of Key Regions/Countries
• 3.5. Overview of Market Drivers, Challenges, Trends

4. Voice of Customer

5. Global Short-Read Sequencing Market Outlook

• 5.1. Market Size & Forecast
  • 5.1.1. By Value
• 5.2. Market Share & Forecast
  • 5.2.1. By Product (Instruments, Consumables, Services)
  • 5.2.2. By Application (Whole Genome Sequencing, Whole Exome Sequencing, Targeted Sequencing & Resequencing, Others)
  • 5.2.3. By End User (Academic & Research Institutes, Hospitals & Clinics, Pharmaceutical & Biotechnology Companies, Others)
  • 5.2.4. By Region
  • 5.2.5. By Company (2025)
• 5.3. Market Map

6. North America Short-Read Sequencing Market Outlook

• 6.1. Market Size & Forecast
  • 6.1.1. By Value
• 6.2. Market Share & Forecast
  • 6.2.1. By Product
  • 6.2.2. By Application
  • 6.2.3. By End User
  • 6.2.4. By Country
• 6.3. North America: Country Analysis
  • 6.3.1. United States Short-Read Sequencing Market Outlook
    • 6.3.1.1. Market Size & Forecast
      • 6.3.1.1.1. By Value
    • 6.3.1.2. Market Share & Forecast
      • 6.3.1.2.1. By Product
      • 6.3.1.2.2. By Application
      • 6.3.1.2.3. By End User
  • 6.3.2. Canada Short-Read Sequencing Market Outlook
    • 6.3.2.1. Market Size & Forecast
      • 6.3.2.1.1. By Value
    • 6.3.2.2. Market Share & Forecast
      • 6.3.2.2.1. By Product
      • 6.3.2.2.2. By Application
      • 6.3.2.2.3. By End User
  • 6.3.3. Mexico Short-Read Sequencing Market Outlook
    • 6.3.3.1. Market Size & Forecast
      • 6.3.3.1.1. By Value
    • 6.3.3.2. Market Share & Forecast
      • 6.3.3.2.1. By Product
      • 6.3.3.2.2. By Application
      • 6.3.3.2.3. By End User

7. Europe Short-Read Sequencing Market Outlook

• 7.1. Market Size & Forecast
  • 7.1.1. By Value
• 7.2. Market Share & Forecast
  • 7.2.1. By Product
  • 7.2.2. By Application
  • 7.2.3. By End User
  • 7.2.4. By Country
• 7.3. Europe: Country Analysis
  • 7.3.1. Germany Short-Read Sequencing Market Outlook
    • 7.3.1.1. Market Size & Forecast
      • 7.3.1.1.1. By Value
    • 7.3.1.2. Market Share & Forecast
      • 7.3.1.2.1. By Product
      • 7.3.1.2.2. By Application
      • 7.3.1.2.3. By End User
  • 7.3.2. France Short-Read Sequencing Market Outlook
    • 7.3.2.1. Market Size & Forecast
      • 7.3.2.1.1. By Value
    • 7.3.2.2. Market Share & Forecast
      • 7.3.2.2.1. By Product
      • 7.3.2.2.2. By Application
      • 7.3.2.2.3. By End User
  • 7.3.3. United Kingdom Short-Read Sequencing Market Outlook
    • 7.3.3.1. Market Size & Forecast
      • 7.3.3.1.1. By Value
    • 7.3.3.2. Market Share & Forecast
      • 7.3.3.2.1. By Product
      • 7.3.3.2.2. By Application
      • 7.3.3.2.3. By End User
  • 7.3.4. Italy Short-Read Sequencing Market Outlook
    • 7.3.4.1. Market Size & Forecast
      • 7.3.4.1.1. By Value
    • 7.3.4.2. Market Share & Forecast
      • 7.3.4.2.1. By Product
      • 7.3.4.2.2. By Application
      • 7.3.4.2.3. By End User
  • 7.3.5. Spain Short-Read Sequencing Market Outlook
    • 7.3.5.1. Market Size & Forecast
      • 7.3.5.1.1. By Value
    • 7.3.5.2. Market Share & Forecast
      • 7.3.5.2.1. By Product
      • 7.3.5.2.2. By Application
      • 7.3.5.2.3. By End User

8. Asia Pacific Short-Read Sequencing Market Outlook

• 8.1. Market Size & Forecast
  • 8.1.1. By Value
• 8.2. Market Share & Forecast
  • 8.2.1. By Product
  • 8.2.2. By Application
  • 8.2.3. By End User
  • 8.2.4. By Country
• 8.3. Asia Pacific: Country Analysis
  • 8.3.1. China Short-Read Sequencing Market Outlook
    • 8.3.1.1. Market Size & Forecast
      • 8.3.1.1.1. By Value
    • 8.3.1.2. Market Share & Forecast
      • 8.3.1.2.1. By Product
      • 8.3.1.2.2. By Application
      • 8.3.1.2.3. By End User
  • 8.3.2. India Short-Read Sequencing Market Outlook
    • 8.3.2.1. Market Size & Forecast
      • 8.3.2.1.1. By Value
    • 8.3.2.2. Market Share & Forecast
      • 8.3.2.2.1. By Product
      • 8.3.2.2.2. By Application
      • 8.3.2.2.3. By End User
  • 8.3.3. Japan Short-Read Sequencing Market Outlook
    • 8.3.3.1. Market Size & Forecast
      • 8.3.3.1.1. By Value
    • 8.3.3.2. Market Share & Forecast
      • 8.3.3.2.1. By Product
      • 8.3.3.2.2. By Application
      • 8.3.3.2.3. By End User
  • 8.3.4. South Korea Short-Read Sequencing Market Outlook
    • 8.3.4.1. Market Size & Forecast
      • 8.3.4.1.1. By Value
    • 8.3.4.2. Market Share & Forecast
      • 8.3.4.2.1. By Product
      • 8.3.4.2.2. By Application
      • 8.3.4.2.3. By End User
  • 8.3.5. Australia Short-Read Sequencing Market Outlook
    • 8.3.5.1. Market Size & Forecast
      • 8.3.5.1.1. By Value
    • 8.3.5.2. Market Share & Forecast
      • 8.3.5.2.1. By Product
      • 8.3.5.2.2. By Application
      • 8.3.5.2.3. By End User

9. Middle East & Africa Short-Read Sequencing Market Outlook

• 9.1. Market Size & Forecast
  • 9.1.1. By Value
• 9.2. Market Share & Forecast
  • 9.2.1. By Product
  • 9.2.2. By Application
  • 9.2.3. By End User
  • 9.2.4. By Country
• 9.3. Middle East & Africa: Country Analysis
  • 9.3.1. Saudi Arabia Short-Read Sequencing Market Outlook
    • 9.3.1.1. Market Size & Forecast
      • 9.3.1.1.1. By Value
    • 9.3.1.2. Market Share & Forecast
      • 9.3.1.2.1. By Product
      • 9.3.1.2.2. By Application
      • 9.3.1.2.3. By End User
  • 9.3.2. UAE Short-Read Sequencing Market Outlook
    • 9.3.2.1. Market Size & Forecast
      • 9.3.2.1.1. By Value
    • 9.3.2.2. Market Share & Forecast
      • 9.3.2.2.1. By Product
      • 9.3.2.2.2. By Application
      • 9.3.2.2.3. By End User
  • 9.3.3. South Africa Short-Read Sequencing Market Outlook
    • 9.3.3.1. Market Size & Forecast
      • 9.3.3.1.1. By Value
    • 9.3.3.2. Market Share & Forecast
      • 9.3.3.2.1. By Product
      • 9.3.3.2.2. By Application
      • 9.3.3.2.3. By End User

10. South America Short-Read Sequencing Market Outlook

• 10.1. Market Size & Forecast
  • 10.1.1. By Value
• 10.2. Market Share & Forecast
  • 10.2.1. By Product
  • 10.2.2. By Application
  • 10.2.3. By End User
  • 10.2.4. By Country
• 10.3. South America: Country Analysis
  • 10.3.1. Brazil Short-Read Sequencing Market Outlook
    • 10.3.1.1. Market Size & Forecast
      • 10.3.1.1.1. By Value
    • 10.3.1.2. Market Share & Forecast
      • 10.3.1.2.1. By Product
      • 10.3.1.2.2. By Application
      • 10.3.1.2.3. By End User
  • 10.3.2. Colombia Short-Read Sequencing Market Outlook
    • 10.3.2.1. Market Size & Forecast
      • 10.3.2.1.1. By Value
    • 10.3.2.2. Market Share & Forecast
      • 10.3.2.2.1. By Product
      • 10.3.2.2.2. By Application
      • 10.3.2.2.3. By End User
  • 10.3.3. Argentina Short-Read Sequencing Market Outlook
    • 10.3.3.1. Market Size & Forecast
      • 10.3.3.1.1. By Value
    • 10.3.3.2. Market Share & Forecast
      • 10.3.3.2.1. By Product
      • 10.3.3.2.2. By Application
      • 10.3.3.2.3. By End User

11. Market Dynamics

• 11.1. Drivers
• 11.2. Challenges

12. Market Trends & Developments

• 12.1. Merger & Acquisition (If Any)
• 12.2. Product Launches (If Any)
• 12.3. Recent Developments

13. Global Short-Read Sequencing Market: SWOT Analysis

14. Porter's Five Forces Analysis

• 14.1. Competition in the Industry
• 14.2. Potential of New Entrants
• 14.3. Power of Suppliers
• 14.4. Power of Customers
• 14.5. Threat of Substitute Products

15. Competitive Landscape

• 15.1. Illumina, Inc.
  • 15.1.1. Business Overview
  • 15.1.2. Products & Services
  • 15.1.3. Recent Developments
  • 15.1.4. Key Personnel
  • 15.1.5. SWOT Analysis
• 15.2. Invitae Corporation
• 15.3. Thermo Fisher Scientific, Inc.
• 15.4. Pacific Biosciences of California, Inc.
• 15.5. BGI Genomics Co., Ltd
• 15.6. QIAGEN NV
• 15.7. Agilent Technologies, Inc.
• 15.8. Azenta US, Inc.
• 15.9. PerkinElmer, Inc.
• 15.10. ProPhase Labs, Inc.

16. Strategic Recommendations

17. About Us & Disclaimer