title: De novo assembly of human genomes with massively parallel short read sequencing.
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.
authors.affiliation: Beijing Genomics Institute at Shenzhen, Shenzhen 518083, China.
authors.forename: Ruiqiang
authors.initials: R
authors.lastname: Li
authors.forename: Hongmei
authors.initials: H
authors.lastname: Zhu
authors.forename: Jue
authors.initials: J
authors.lastname: Ruan
authors.forename: Wubin
authors.initials: W
authors.lastname: Qian
authors.forename: Xiaodong
authors.initials: X
authors.lastname: Fang
authors.forename: Zhongbin
authors.initials: Z
authors.lastname: Shi
authors.forename: Yingrui
authors.initials: Y
authors.lastname: Li
authors.forename: Shengting
authors.initials: S
authors.lastname: Li
authors.forename: Gao
authors.initials: G
authors.lastname: Shan
authors.forename: Karsten
authors.initials: K
authors.lastname: Kristiansen
authors.forename: Songgang
authors.initials: S
authors.lastname: Li
authors.forename: Huanming
authors.initials: H
authors.lastname: Yang
authors.forename: Jian
authors.initials: J
authors.lastname: Wang
authors.forename: Jun
authors.initials: J
authors.lastname: Wang
mesh_terms: 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*