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纳米孔测序技术、生物信息学及其应用。

Nanopore sequencing technology, bioinformatics and applications.

机构信息

Department of Biomedical Informatics, The Ohio State University, Columbus, OH, USA.

Biomedical Informatics Shared Resources, The Ohio State University, Columbus, OH, USA.

出版信息

Nat Biotechnol. 2021 Nov;39(11):1348-1365. doi: 10.1038/s41587-021-01108-x. Epub 2021 Nov 8.

Abstract

Rapid advances in nanopore technologies for sequencing single long DNA and RNA molecules have led to substantial improvements in accuracy, read length and throughput. These breakthroughs have required extensive development of experimental and bioinformatics methods to fully exploit nanopore long reads for investigations of genomes, transcriptomes, epigenomes and epitranscriptomes. Nanopore sequencing is being applied in genome assembly, full-length transcript detection and base modification detection and in more specialized areas, such as rapid clinical diagnoses and outbreak surveillance. Many opportunities remain for improving data quality and analytical approaches through the development of new nanopores, base-calling methods and experimental protocols tailored to particular applications.

摘要

纳米孔技术在测序单链 DNA 和 RNA 分子方面的快速发展,使得测序的准确性、读长和通量都得到了显著提高。这些突破需要对实验和生物信息学方法进行广泛的开发,以便充分利用纳米孔长读长来研究基因组、转录组、表观基因组和转录后修饰组。纳米孔测序技术正在被应用于基因组组装、全长转录本检测和碱基修饰检测,以及更专业的领域,如快速临床诊断和疫情监测。通过开发针对特定应用的新型纳米孔、碱基判读方法和实验方案,仍然有许多机会可以提高数据质量和分析方法。

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