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

Li, Ruiqiang, Zhu, Hongmei, Ruan, Jue, Qian, Wubin, Fang, Xiaodong, Shi, Zhongbin, Li, Yingrui, Li, Shengting, Shan, Gao, Kristiansen, Karsten, Li, Songgang, Yang, Huanming, Wang, Jian and Wang, Jun (2010) De novo assembly of human genomes with massively parallel short read sequencing. Genome Research, 20 2: 265-272. doi:10.1101/gr.097261.109

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Author Li, Ruiqiang
Zhu, Hongmei
Ruan, Jue
Qian, Wubin
Fang, Xiaodong
Shi, Zhongbin
Li, Yingrui
Li, Shengting
Shan, Gao
Kristiansen, Karsten
Li, Songgang
Yang, Huanming
Wang, Jian
Wang, Jun
Title De novo assembly of human genomes with massively parallel short read sequencing
Journal name Genome Research   Check publisher's open access policy
ISSN 1088-9051
Publication date 2010-01-01
Year available 2009
Sub-type Article (original research)
DOI 10.1101/gr.097261.109
Open Access Status File (Publisher version)
Volume 20
Issue 2
Start page 265
End page 272
Total pages 8
Place of publication Cold Spring Harbor, NY United States
Publisher Cold Spring Harbor Laboratory Press
Language eng
Abstract 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.
Keyword Biochemistry & Molecular Biology
Genetics & Heredity
Biochemistry & Molecular Biology
Genetics & Heredity
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: Institute for Molecular Bioscience - Publications
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Citation counts: TR Web of Science Citation Count  Cited 1254 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 1460 times in Scopus Article | Citations
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Created: Fri, 04 Sep 2015, 21:50:07 EST by Mr Mathew Carter on behalf of Institute for Molecular Bioscience