Structural variation in two human genomes mapped at single-nucleotide resolution by whole genome de novo assembly

Research output: Contribution to journalJournal articleResearchpeer-review

  • Yingrui Li
  • Hancheng Zheng
  • Ruibang Luo
  • Honglong Wu
  • Hongmei Zhu
  • Ruiqiang Li
  • Hongzhi Cao
  • Boxin Wu
  • Shujia Huang
  • Haojing Shao
  • Hanzhou Ma
  • Fan Zhang
  • Shuijian Feng
  • Wei Zhang
  • Hongli Du
  • Geng Tian
  • Jingxiang Li
  • Xiuqing Zhang
  • Songgang Li
  • Lars Bolund
  • Adam J de Smith
  • Alexandra I F Blakemore
  • Lachlan J M Coin
  • Huanming Yang
  • Jian Wang
  • Jun Wang
  • Jun Wang
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
Original languageEnglish
JournalNature Biotechnology
Volume29
Issue number8
Pages (from-to)723-730
Number of pages8
ISSN1087-0156
DOIs
Publication statusPublished - 2011

ID: 35397771