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Nanopore sequencing technology, bioinformatics and applications
Nature Biotechnology ( IF 33.1 ) Pub Date : 2021-11-08 , DOI: 10.1038/s41587-021-01108-x
Yunhao Wang 1 , Yue Zhao 1, 2 , Audrey Bollas 1 , Yuru Wang 1 , Kin Fai Au 1, 2
Affiliation  

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.



中文翻译:


纳米孔测序技术、生物信息学及应用



用于对单个长 DNA 和 RNA 分子进行测序的纳米孔技术的快速发展导致准确性、读长和通量的显着提高。这些突破需要广泛开发实验和生物信息学方法,以充分利用纳米孔长读长来研究基因组、转录组、表观基因组和表观转录组。纳米孔测序正在应用于基因组组装、全长转录本检测和碱基修饰检测以及更专业的领域,例如快速临床诊断和疫情监测。通过开发新的纳米孔、碱基识别方法和针对特定应用定制的实验方案,仍有许多机会来提高数据质量和分析方法。

更新日期:2021-11-08
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