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本文引用的文献

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SOAPdenovo2: an empirically improved memory-efficient short-read de novo assembler.SOAPdenovo2:一种经验丰富的、内存效率高的短读长从头组装器。
Gigascience. 2012 Dec 27;1(1):18. doi: 10.1186/2047-217X-1-18.
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Efficient de novo assembly of large genomes using compressed data structures.利用压缩数据结构进行高效的从头基因组组装。
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GAGE: A critical evaluation of genome assemblies and assembly algorithms.盖奇:基因组组装和算法的关键评估。
Genome Res. 2012 Mar;22(3):557-67. doi: 10.1101/gr.131383.111. Epub 2012 Jan 6.
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A fast hybrid short read fragment assembly algorithm.一种快速的混合短读片段组装算法。
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Genome assembly reborn: recent computational challenges.基因组组装重生:近期的计算挑战
Brief Bioinform. 2009 Jul;10(4):354-66. doi: 10.1093/bib/bbp026. Epub 2009 May 29.
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ABySS: a parallel assembler for short read sequence data.ABySS:一种用于短读长序列数据的并行汇编器。
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从头组装大型基因组的装配器。

Assembler for de novo assembly of large genomes.

机构信息

Institute of Information Science, Academia Sinica, Taipei 115, Taiwan.

出版信息

Proc Natl Acad Sci U S A. 2013 Sep 3;110(36):E3417-24. doi: 10.1073/pnas.1314090110. Epub 2013 Aug 21.

DOI:10.1073/pnas.1314090110
PMID:23966565
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3767511/
Abstract

Assembling a large genome using next generation sequencing reads requires large computer memory and a long execution time. To reduce these requirements, we propose an extension-based assembler, called JR-Assembler, where J and R stand for "jumping" extension and read "remapping." First, it uses the read count to select good quality reads as seeds. Second, it extends each seed by a whole-read extension process, which expedites the extension process and can jump over short repeats. Third, it uses a dynamic back trimming process to avoid extension termination due to sequencing errors. Fourth, it remaps reads to each assembled sequence, and if an assembly error occurs by the presence of a repeat, it breaks the contig at the repeat boundaries. Fifth, it applies a less stringent extension criterion to connect low-coverage regions. Finally, it merges contigs by unused reads. An extensive comparison of JR-Assembler with current assemblers using datasets from small, medium, and large genomes shows that JR-Assembler achieves a better or comparable overall assembly quality and requires lower memory use and less central processing unit time, especially for large genomes. Finally, a simulation study shows that JR-Assembler achieves a superior performance on memory use and central processing unit time than most current assemblers when the read length is 150 bp or longer, indicating that the advantages of JR-Assembler over current assemblers will increase as the read length increases with advances in next generation sequencing technology.

摘要

使用下一代测序reads 组装大型基因组需要大量的计算机内存和较长的执行时间。为了减少这些需求,我们提出了一种基于扩展的组装器,称为 JR-Assembler,其中 J 和 R 分别代表“跳跃”扩展和读取“重映射”。首先,它使用读取计数来选择高质量的reads 作为种子。其次,它通过全读扩展过程扩展每个种子,这可以加快扩展过程并跳过短重复。第三,它使用动态回溯修剪过程来避免由于测序错误导致的扩展终止。第四,它将reads 重新映射到每个组装的序列上,如果由于存在重复而导致组装错误,则在重复边界处打断连续体。第五,它应用较不严格的扩展标准来连接低覆盖率区域。最后,它通过未使用的reads 合并 contigs。使用来自小、中、大基因组的数据集,对 JR-Assembler 与当前组装器进行了广泛的比较,结果表明 JR-Assembler 实现了更好或可比的整体组装质量,并且需要更少的内存和更少的中央处理器时间,特别是对于大型基因组。最后,一项模拟研究表明,当读取长度为 150bp 或更长时,JR-Assembler 在内存使用和中央处理器时间方面的性能优于大多数当前的组装器,这表明随着下一代测序技术的发展,JR-Assembler 相对于当前组装器的优势将随着读取长度的增加而增加。