Ruiqiang Li1,2, Hongmei Zhu1, Jue Ruan1, Wubin Qian1, Xiaodong Fang1, Zhongbin Shi1, Yingrui Li1, Shengting Li1, Shan Gao1, Karsten Kristiansen1,2, Songgang Li1, Huanming Yang1, Jian Wang1, Jun Wang1,2
1Beijing Genomics Institute at Shenzhen, Shenzhen 518083, China
2Department of Biology, University of Copenhagen, Copenhagen, DK-2200, Denmark
Tóm tắt
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.
