De novo assembly of human genomes with massively parallel short read sequencing
De novo assembly of human genomes with massively parallel short read sequencing
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DOI：
10.1101/gr.097261.109
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发表时间：
2010-02-01
期刊：
影响因子：
7
通讯作者：
Wang, Jun
中科院分区：
文献类型：
--
作者：
Li, Ruiqiang;Zhu, Hongmei;Wang, Jun
下一代大规模并行DNA测序技术以较低的单位数据成本提供超高通量；然而，数据是非常短的读取长度序列，使得重新组装极具挑战性。在这里，我们描述了一种从短读序列从头组装大基因组的新方法。我们成功地组装了亚洲和非洲的人类基因组序列，分别获得了7.4和5.9千碱基（kb）的N50序列和446.3和61.9 kb的支架。这种全新的短读组装方法的发展为构建参考序列和以经济有效的方式对未开发的基因组进行准确分析创造了新的机会。
Next-generation massively parallel DNA sequencing technologies provide ultrahigh throughput at a substantially lower unit data cost; however, the data are very short read length sequences, making de novo assembly extremely challenging. Here, we describe a novel method for de novo assembly of large genomes from short read sequences. We successfully assembled both the Asian and African human genome sequences, achieving an N50 contig size of 7.4 and 5.9 kilobases (kb) and scaffold of 446.3 and 61.9 kb, respectively. The development of this de novo short read assembly method creates new opportunities for building reference sequences and carrying out accurate analyses of unexplored genomes in a cost-effective way.