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长读长测序时代的植物基因组序列组装:进展、挑战与未来方向

Plant genome sequence assembly in the era of long reads: Progress, challenges and future directions.

作者信息

Pucker Boas, Irisarri Iker, de Vries Jan, Xu Bo

机构信息

Department of Plant Sciences, University of Cambridge, Cambridge, United Kingdom.

Institute of Plant Biology & Braunschweig Integrated Centre of Systems Biology (BRICS), TU Braunschweig, Braunschweig, Germany.

出版信息

Quant Plant Biol. 2022 Mar 11;3:e5. doi: 10.1017/qpb.2021.18. eCollection 2022.

Abstract

Third-generation long-read sequencing is transforming plant genomics. Oxford Nanopore Technologies and Pacific Biosciences are offering competing long-read sequencing technologies and enable plant scientists to investigate even large and complex plant genomes. Sequencing projects can be conducted by single research groups and sequences of smaller plant genomes can be completed within days. This also resulted in an increased investigation of genomes from multiple species in large scale to address fundamental questions associated with the origin and evolution of land plants. Increased accessibility of sequencing devices and user-friendly software allows more researchers to get involved in genomics. Current challenges are accurately resolving diploid or polyploid genome sequences and better accounting for the intra-specific diversity by switching from the use of single reference genome sequences to a pangenome graph.

摘要

第三代长读长测序正在改变植物基因组学。牛津纳米孔技术公司和太平洋生物科学公司提供相互竞争的长读长测序技术,使植物科学家能够研究甚至是大型和复杂的植物基因组。测序项目可以由单个研究小组进行,较小植物基因组的测序可以在数天内完成。这也导致了大规模对多个物种基因组的研究增加,以解决与陆地植物起源和进化相关的基本问题。测序设备的可及性提高和用户友好型软件使更多研究人员能够参与基因组学研究。当前的挑战是准确解析二倍体或多倍体基因组序列,并通过从使用单一参考基因组序列转向泛基因组图谱,更好地考虑种内多样性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3372/10095996/8e83befb0ffd/S2632882821000187_fig1.jpg

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