Meraculous: de novo genome assembly with short paired-end reads.

Meraculous: de novo genome assembly with short paired-end reads.
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DOI:
10.1371/journal.pone.0023501
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发表时间:
2011
期刊:
影响因子:
3.7
通讯作者:
Rokhsar DS
Rokhsar DS
中科院分区:
综合性期刊3区
文献类型:
--
作者:
Chapman JA;Ho I;Sunkara S;Luo S;Schroth GP;Rokhsar DS

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我们描述了一种新的算法meraculous,用于全基因组的深配对末端短reads组装,并将其应用于来自单倍体酵母Pichia stipitis的15.4兆碱基基因组的配对75 bp Illumina reads数据集的组装。超过95%的基因组被恢复,没有任何错误;一半的组装序列在长度超过101千碱基的contigs中,在长度超过269千碱基的scaffold中。合并双尖端可以恢复整个染色体。Meraculous依赖于对数据集中具有独特高质量扩展的寡核苷酸k-mer (deBruijn)图的子图进行有效和保守的遍历,避免了其他短读汇编程序中使用的显式纠错步骤。介绍了一种新的高效内存散列方案。所得到的contigs是有序和定向的,使用相隔约280 bp或约3.2 kbp的成对reads,并且可以使用成对末端放置关闭contigs之间的许多间隙。描述了数据集的实际问题,并讨论了组装更大基因组的前景。
We describe a new algorithm, meraculous, for whole genome assembly of deep paired-end short reads, and apply it to the assembly of a dataset of paired 75-bp Illumina reads derived from the 15.4 megabase genome of the haploid yeast Pichia stipitis. More than 95% of the genome is recovered, with no errors; half the assembled sequence is in contigs longer than 101 kilobases and in scaffolds longer than 269 kilobases. Incorporating fosmid ends recovers entire chromosomes. Meraculous relies on an efficient and conservative traversal of the subgraph of the k-mer (deBruijn) graph of oligonucleotides with unique high quality extensions in the dataset, avoiding an explicit error correction step as used in other short-read assemblers. A novel memory-efficient hashing scheme is introduced. The resulting contigs are ordered and oriented using paired reads separated by ∼280 bp or ∼3.2 kbp, and many gaps between contigs can be closed using paired-end placements. Practical issues with the dataset are described, and prospects for assembling larger genomes are discussed.
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