1. De novo assembly of human genomes with massively parallel short read sequencing
- Author
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Xiaodong Fang, Wubin Qian, Jing Wang, Hongmei Zhu, Gao Shan, Songgang Li, Jue Ruan, Yingrui Li, Karsten Kristiansen, Jun Wang, Shengting Li, Huanming Yang, Zhongbin Shi, and Ruiqiang Li
- Subjects
Genetics ,Resource ,Asian Continental Ancestry Group ,Contig ,Assembly software ,Genome, Human ,Sequence assembly ,Black People ,Hybrid genome assembly ,Computational biology ,Sequence Analysis, DNA ,Biology ,Genome ,DNA sequencing ,Asian People ,Human Genome Project ,Humans ,Human genome ,Sequence Alignment ,Genetics (clinical) ,Paired-end tag ,African Continental Ancestry Group ,Oligonucleotide Array Sequence Analysis - 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.
- Published
- 2010