现代仪器与医疗

高通量测序仪与生物信息学分析平台在bulk测序中的集成与应用

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薛柔 ^a^,^b^,^c^,^d , 晏菲 ^e , 印明柱 ^a^,^b^,^c^,^d , 李鑫 ^a^,^b^,^c^,^d^,^*

现代仪器与医疗 | 综述 2026,32(4): 130-138

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现代仪器与医疗 |综述 2026 , 32 (4) : 130 -138

高通量测序仪与生物信息学分析平台在bulk测序中的集成与应用

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薛柔^a^,^b^,^c^,^d, 晏菲^e, 印明柱^a^,^b^,^c^,^d, 李鑫^a^,^b^,^c^,^d^,^*

作者信息

^a.重庆大学附属三峡医院　临床研究中心，重庆　404000

^b.重庆大学附属三峡医院　医学病理中心，重庆　404000

^c.重庆大学附属三峡医院　肿瘤早期诊治中心，重庆　404000

^d.重庆大学附属三峡医院　转化医学研究中心，重庆　404000

^e.重庆大学附属三峡医院　重庆市老年疾病临床医学研究中心，重庆　404000

通讯作者:

李鑫，女，博士研究生，研究员，研究方向：复杂疾病微环境调控机制研究

作者简介:

薛柔，女，硕士研究生，助理研究员，研究方向：分子病理；

晏菲，男，博士研究生，副研究员，研究方向：生物力学与康复工程

Integration and application of high-throughput sequencers and bioinformatics analysis platforms in bulk sequencing

Rou Xue^a^,^b^,^c^,^d, Fei Yan^e, Mingzhu Yin^a^,^b^,^c^,^d, Xin Li^a^,^b^,^c^,^d^,^*

Affiliations

^a.Clinical Research Center (CRC), Chongqing University Three Gorges Hospital, Chongqing 404000, China

^b.Medical Pathology Center (MPC), Chongqing University Three Gorges Hospital, Chongqing 404000, China

^c.Cancer Early Detection and Treatment Center (CEDTC), Chongqing University Three Gorges Hospital, Chongqing 404000, China

^d.Translational Medicine Research Center (TMRC), Chongqing University Three Gorges Hospital, Chongqing 404000, China

^e.Chongqing Municipality Clinical Research Center for Geriatric Diseases, Chongqing University Three Gorges Hospital, Chongqing 404000, China

出版时间: 2026-08-10 doi: 10.11876/mimt202604018

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摘要

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高通量测序技术即下一代测序（next-generation sequencing，NGS）技术的快速发展推动了基因组学、转录组学的进步，但其数据规模的指数级增长对数据分析能力提出了严峻挑战，促使生物信息学分析平台成为高通量测序数据解析的核心工具。本文综述了bulk测序中高通量测序仪与生物信息学分析平台的集成与应用，重点讨论了数据处理流程整合、算法优化及自动化处理在提升研究效率和准确性中的重要作用。首先介绍了不同高通量测序技术的基本原理、仪器特征及其在bulk测序中的适用场景，分析了NGS数据预处理与质量控制、序列比对和变异检测算法的演进，以及自动化分析流程与测序系统之间的协同关系。在此基础上，分别从科研场景中的集成模式、临床检测中的流程化集成模式以及智能化与云端平台驱动的新型集成模式3个方面，结合人群基因组研究、肿瘤精准医疗及病原体快速检测等实际案例，探讨了高通量测序仪与生物信息学分析平台协同应用在提升数据处理效率、分析准确性及结果转化能力方面的价值。最后，展望了人工智能算法、云计算平台、实时分析及多模态数据整合在bulk测序生物信息学分析中的发展前景。

关键词

高通量测序仪 / 生物信息学分析平台 / 数据整合 / 精准医学 / 自动化处理

Abstract

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The rapid advancement of high-throughput sequencing technology, also known as next-generation sequencing (NGS), has significantly propelled research in genomics and transcriptomics. However, the exponential growth of data poses substantial challenges to data analysis capabilities, effectively positioning bioinformatics analysis platforms as core tools for the interpretation of high-throughput sequencing datasets. This review explores the integration and application of high-throughput sequencers and bioinformatics analysis platforms in bulk sequencing, focusing on the critical roles of data processing workflow integration, algorithm optimization, and automated processing in enhancing research efficiency and accuracy. Firstly, it introduces the fundamental principles and instrument characteristics of various high-throughput sequencing technologies and their applicable scenarios in bulk sequencing, and analyzes NGS data preprocessing and quality control, the evolution of sequence alignment and variant detection algorithms, and the coordination between automated analysis workflows and sequencing systems. On this basis, the integration modes are discussed from three perspectives: integration in research settings, workflow-based integration in clinical testing, and novel integration driven by intelligent and cloud platforms. By incorporating practical examples from population genomics research, precision oncology, and rapid pathogen detection, it explores the value of integrating high-throughput sequencers with bioinformatics analysis platforms in improving data processing efficiency, analytical accuracy, and the translational potential of results. Finally, the future prospects of artificial intelligence algorithms, cloud computing platforms, real-time analysis, and multimodal data integration in bioinformatics analysis for bulk sequencing are discussed.

Key words

High-throughput sequencer / Bioinformatics analysis platform / Data integration / Precision medicine / Automated processing

引用本文

薛柔, 晏菲, 印明柱, 李鑫. 高通量测序仪与生物信息学分析平台在bulk测序中的集成与应用. 现代仪器与医疗, 2026 , 32 (4) : 130 -138 . DOI: 10.11876/mimt202604018

Rou Xue, Fei Yan, Mingzhu Yin, Xin Li. Integration and application of high-throughput sequencers and bioinformatics analysis platforms in bulk sequencing[J]. Modern Instruments & Medical Treatment, 2026 , 32 (4) : 130 -138 . DOI: 10.11876/mimt202604018

基金

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重庆市科卫联合医学科研项目青年（医师）科学家项目(2025QNKX004)
新重庆青年创新人才项目(CSTB2025YITP-QCRCX0005)

参考文献

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2026年第32卷第4期

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文章信息

doi: 10.11876/mimt202604018

接收时间：2026-03-02
首发时间：2026-10-23
出版时间：2026-08-10

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出版历史

收稿日期：2026-03-02

基金

重庆市科卫联合医学科研项目青年（医师）科学家项目(2025QNKX004)

新重庆青年创新人才项目(CSTB2025YITP-QCRCX0005)

作者信息

^a.重庆大学附属三峡医院　临床研究中心，重庆　404000

^b.重庆大学附属三峡医院　医学病理中心，重庆　404000

^c.重庆大学附属三峡医院　肿瘤早期诊治中心，重庆　404000

^d.重庆大学附属三峡医院　转化医学研究中心，重庆　404000

^e.重庆大学附属三峡医院　重庆市老年疾病临床医学研究中心，重庆　404000

通讯作者:

李鑫，女，博士研究生，研究员，研究方向：复杂疾病微环境调控机制研究

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2种不同金属材料的力学参数

科 Family	属数 Number of genus	种数 Number of species	占总种数比例 Percentage of total species (%)	属 Genus	种数 Number of species	占总种数比例 Percentage of total species (%)
鹅膏菌科Amanitaceae	2	11	5.26	鹅膏菌属 Amanita	10	4.78
小菇科 Mycenaceae	2	12	5.74	丝盖伞属 Inocybe	5	2.39
多孔菌科 Polyporaceae	8	14	6.70	蜡蘑属 Laccaria	5	2.39
红菇科 Russulaceae	3	23	11.00	小皮伞属 Marasmius	6	2.87
				小菇属 Mycena	11	5.26
				光柄菇属 Pluteus	5	2.39
				红菇属 Russula	17	8.13
				栓菌属 Trametes	5	2.39

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