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

Ruiqiang Li | Zendy; Hongmei Zhu | Zendy; Jue Ruan | Zendy; Wubin Qian | Zendy; Xiaodong Fang | Zendy; Zhongbin Shi | Zendy; Yingrui Li | Zendy; Shengting Li | Zendy; Shan Gao | Zendy; Karsten Kristiansen | Zendy; Songgang Li | Zendy; Huanming Yang | Zendy; Jian Wang | Zendy; Jun Wang | Zendy

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

Author(s) -

Ruiqiang Li,

Hongmei Zhu,

Jue Ruan,

Wubin Qian,

Xiaodong Fang,

Zhongbin Shi,

Yingrui Li,

Shengting Li,

Shan Gao,

Karsten Kristiansen,

Songgang Li,

Huanming Yang,

Jian Wang,

Jun Wang

Publication year - 2009

Publication title -

genome research

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 9.556

H-Index - 297

eISSN - 1549-5469

pISSN - 1088-9051

DOI - 10.1101/gr.097261.109

Subject(s) - contig , sequence assembly , biology , massive parallel sequencing , hybrid genome assembly , massively parallel , genome , dna sequencing , computational biology , human genome , reference genome , genetics , dna , computer science , gene , parallel computing , transcriptome , gene expression

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.

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