De novo assembly of human genomes with massively parallel short read sequencing

被引：2285

作者：

Li, Ruiqiang ^{[1
,2
]}

Zhu, Hongmei ^{[1
]}

Ruan, Jue ^{[1
]}

Qian, Wubin ^{[1
]}

Fang, Xiaodong ^{[1
]}

Shi, Zhongbin ^{[1
]}

Li, Yingrui ^{[1
]}

Li, Shengting ^{[1
]}

Shan, Gao ^{[1
]}

Kristiansen, Karsten ^{[1
,2
]}

Li, Songgang ^{[1
]}

Yang, Huanming ^{[1
]}

Wang, Jian ^{[1
]}

Wang, Jun ^{[1
,2
]}

机构：

[1] Beijing Genom Inst Shenzhen, Shenzhen 518083, Peoples R China

[2] Univ Copenhagen, Dept Biol, DK-2200 Copenhagen, Denmark

来源：

GENOME RESEARCH | 2010年 / 20卷 / 02期

基金：

中国国家自然科学基金;

关键词：

SHORT DNA-SEQUENCES; ALIGNMENT; MILLIONS; PROGRAM;

D O I：

10.1101/gr.097261.109

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：265 / 272

页数：8

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