作者
Jinchuan Xing, Yuhua Zhang, Kyudong Han, Abdel Halim Salem, Shurjo K Sen, Chad D Huff, Qiong Zhou, Ewen F Kirkness, Samuel Levy, Mark A Batzer, Lynn B Jorde
发表日期
2009/9/1
期刊
Genome research
卷号
19
期号
9
页码范围
1516-1526
出版商
Cold Spring Harbor Lab
简介
Structural variants (SVs) are common in the human genome. Because approximately half of the human genome consists of repetitive, transposable DNA sequences, it is plausible that these elements play an important role in generating SVs in humans. Sequencing of the diploid genome of one individual human (HuRef) affords us the opportunity to assess, for the first time, the impact of mobile elements on SVs in an individual in a thorough and unbiased fashion. In this study, we systematically evaluated more than 8000 SVs to identify mobile element-associated SVs as small as 100 bp and specific to the HuRef genome. Combining computational and experimental analyses, we identified and validated 706 mobile element insertion events (including Alu, L1, SVA elements, and nonclassical insertions), which added more than 305 kb of new DNA sequence to the HuRef genome compared with the Human Genome …
引用总数
20092010201120122013201420152016201720182019202020212022202320241031404324303024281728172113147
学术搜索中的文章