纳米孔测序技术的进展与应用

doi:10.3870/j.issn.1672-8009.2026.04.015

摘要/Abstract

摘要： 纳米孔测序作为一种创新的高通量测序技术,凭借其实时检测、长读长以及无需PCR扩增的独特优势,已成为基因组学研究和临床诊断领域的重要工具。近年来,该技术在测序速度和数据准确性方面取得了显著进步,极大地推动了基因组测序、转录组分析以及多组学整合研究的发展。然而,纳米孔测序仍面临信号噪声、数据处理复杂性及准确性提升的挑战。文章通过对纳米孔测序的基本原理与技术演进进行综述,重点探讨其在基因组测序、转录组分析及临床应用中的最新进展,深入分析了现阶段存在的技术瓶颈及未来的发展方向,为相关科研人员提供全面的理论支持和实践指导,进一步推动纳米孔测序技术在生命科学和医学领域的广泛应用。

关键词: 纳米孔测序, 高通量测序, 基因组学, 转录组, 临床诊断, 技术进展

Abstract: As an innovative high-throughput sequencing technology,nanopore sequencing has become a vital tool in genomics research and clinical diagnostics due to its unique advantages of real-time detection,long-read capability,and PCR-free amplification.In recent years,significant advancements in sequencing speed and data accuracy have driven progress in genome sequencing,transcriptome analysis,and multi-omics integration studies.However,nanopore sequencing still faces challenges such as signal noise,complex data processing,and accuracy improvement.This article systematically reviews the fundamental principles and technological evolution of nanopore sequencing,with a focus on its latest advancements in genome sequencing,transcriptome analysis,and clinical applications.In addition,by exploring current technical bottlenecks and future development directions,this article aims to provide comprehensive theoretical support and practical guidance for researchers,thereby promoting the widespread application of nanopore sequencing technology in life sciences and medicine.

Key words: nanopore sequencing, high-throughput sequencing, genomics, transcriptome, clinical diagnosis, technological progress

中图分类号:

Q819

吴海明, 詹伟武, 柳家翠. 纳米孔测序技术的进展与应用[J]. 医学分子生物学杂志, 2026, 23(4): 471-476.

WU Haiming, ZHAN Weiwu, LIU Jiacui. Advances and Applications of Nanoscale Nanopore Sequencing Technology[J]. Journal of Medical Molecular Biology, 2026, 23(4): 471-476.

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