Article
De novo assembly of a haplotype-resolved human genome.
Nature biotechnology - 1 Jun 2015
Cao Hongzhi, Wu Honglong, Luo Ruibang, Huang Shujia, Sun Yuhui, Tong Xin, Xie Yinlong, Liu Binghang, Yang Hailong, Zheng Hancheng, Li Jian, Li Bo, Wang Yu, Yang Fang, Sun Peng, Liu Siyang, Gao Peng, Huang Haodong, Sun Jing, Chen Dan, He Guangzhu, Huang Weihua, Huang Zheng, Li Yue, Tellier Laurent C A M, Liu Xiao, Feng Qiang, Xu Xun, Zhang Xiuqing, Bolund Lars, Krogh Anders, Kristiansen Karsten, Drmanac Radoje, Drmanac Snezana, Nielsen Rasmus, Li Songgang, Wang Jian, Yang Huanming, Li Yingrui, Wong Gane Ka-Shu, Wang Jun
Abstract excerpt
The human genome is diploid, and knowledge of the variants on each chromosome is important for the interpretation of genomic information. Here we report the assembly of a haplotype-resolved diploid genome without using a reference genome. Our pipeline relies on fosmid pooling together with whole-genome shotgun strategies, based solely on next-generation sequencing and hierarchical assembly methods. We applied our...
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