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Integration and application of high-throughput sequencers and bioinformatics analysis platforms in bulk sequencing
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Rou Xuea, b, c, d, Fei Yane, Mingzhu Yina, b, c, d, Xin Lia, b, c, d, *
Modern Instruments & Medical Treatment | 2026, 32(4) : 130 - 138
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Modern Instruments & Medical Treatment | 2026, 32(4): 130-138
Integration and application of high-throughput sequencers and bioinformatics analysis platforms in bulk sequencing
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Rou Xuea, b, c, d, Fei Yane, Mingzhu Yina, b, c, d, Xin Lia, 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
Published: 2026-08-10 doi: 10.11876/mimt202604018
Outline
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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.

High-throughput sequencer  /  Bioinformatics analysis platform  /  Data integration  /  Precision medicine  /  Automated processing
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
Year 2026 volume 32 Issue 4
90
11
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doi: 10.11876/mimt202604018
  • Receive Date:2026-03-02
  • Online Date:2026-10-23
  • Published:2026-08-10
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  • Received:2026-03-02
Funding
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
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表12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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