De novo assembly of human genomes with massively parallel short read sequencing.
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.
Li
Ruiqiang
R
Beijing Genomics Institute at Shenzhen, Shenzhen 518083, China.
Zhu
Hongmei
H
Ruan
Jue
J
Qian
Wubin
W
Fang
Xiaodong
X
Shi
Zhongbin
Z
Li
Yingrui
Y
Li
Shengting
S
Shan
Gao
G
Kristiansen
Karsten
K
Li
Songgang
S
Yang
Huanming
H
Wang
Jian
J
Wang
Jun
J
D044466:Asian People / Q000235:genetics; D044383:Black People / Q000235:genetics; D015894:Genome, Human; D016045:Human Genome Project; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis / Q000191:economics / Q000379:methods; D016415:Sequence Alignment / Q000191:economics / Q000379:methods*; D017422:Sequence Analysis, DNA / Q000191:economics / Q000379:methods*