Structural variation in two human genomes mapped at single-nucleotide resolution by whole genome de novo assembly
Structural variation in two human genomes mapped at single-nucleotide resolution by whole genome de novo assembly
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DOI：
10.1038/nbt.1904
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发表时间：
2011-08-01
影响因子：
46.9
通讯作者：
Wang, Jun
中科院分区：
文献类型：
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作者：
Li, Yingrui;Zheng, Hancheng;Wang, Jun
在这里，我们使用全基因组从头组装第二代测序reads来绘制亚洲基因组和非洲基因组的结构变异（SV）。我们的方法可以识别小和中等大小的纯合变异（1-50 kb），包括插入、缺失、反转及其精确的断点，与其他方法相比，可以解决复杂的重排问题。总共鉴定出277,243个sv，长度从1-23 kb不等。通过计算和实验方法的验证表明，我们达到了总体目标
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