Article
Structural variation in two human genomes mapped at single-nucleotide resolution by whole genome de novo assembly.
Nature biotechnology - 24 Jul 2011
Li Yingrui, Zheng Hancheng, Luo Ruibang, Wu Honglong, Zhu Hongmei, Li Ruiqiang, Cao Hongzhi, Wu Boxin, Huang Shujia, Shao Haojing, Ma Hanzhou, Zhang Fan, Feng Shuijian, Zhang Wei, Du Hongli, Tian Geng, Li Jingxiang, Zhang Xiuqing, Li Songgang, Bolund Lars, Kristiansen Karsten, de Smith Adam J, Blakemore Alexandra I F, Coin Lachlan J M, Yang Huanming, Wang Jian, Wang Jun
Abstract excerpt
Here we use whole-genome de novo assembly of second-generation sequencing reads to map structural variation (SV) in an Asian genome and an African genome. Our approach identifies small- and intermediate-size homozygous variants (1-50 kb) including insertions, deletions, inversions and their precise breakpoints, and in contrast to other methods, can resolve complex rearrangements. In total, we identified 277,243...
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