Structural variation in two human genomes mapped at single-nucleotide resolution by whole genome de novo assembly
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Structural variation in two human genomes mapped at single-nucleotide resolution by whole genome de novo assembly. / 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; Wang, Jun.
In: Nature Biotechnology, Vol. 29, No. 8, 2011, p. 723-730.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Structural variation in two human genomes mapped at single-nucleotide resolution by whole genome de novo assembly
AU - Li, Yingrui
AU - Zheng, Hancheng
AU - Luo, Ruibang
AU - Wu, Honglong
AU - Zhu, Hongmei
AU - Li, Ruiqiang
AU - Cao, Hongzhi
AU - Wu, Boxin
AU - Huang, Shujia
AU - Shao, Haojing
AU - Ma, Hanzhou
AU - Zhang, Fan
AU - Feng, Shuijian
AU - Zhang, Wei
AU - Du, Hongli
AU - Tian, Geng
AU - Li, Jingxiang
AU - Zhang, Xiuqing
AU - Li, Songgang
AU - Bolund, Lars
AU - Kristiansen, Karsten
AU - de Smith, Adam J
AU - Blakemore, Alexandra I F
AU - Coin, Lachlan J M
AU - Yang, Huanming
AU - Wang, Jian
AU - Wang, Jun
AU - Wang, Jun
PY - 2011
Y1 - 2011
N2 - 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 SVs ranging in length from 1-23 kb. Validation using computational and experimental methods suggests that we achieve overall
AB - 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 SVs ranging in length from 1-23 kb. Validation using computational and experimental methods suggests that we achieve overall
U2 - 10.1038/nbt.1904
DO - 10.1038/nbt.1904
M3 - Journal article
C2 - 21785424
VL - 29
SP - 723
EP - 730
JO - Nature Biotechnology
JF - Nature Biotechnology
SN - 1087-0156
IS - 8
ER -
ID: 35397771