作者
Aaron R Quinlan, Royden A Clark, Svetlana Sokolova, Mitchell L Leibowitz, Yujun Zhang, Matthew E Hurles, Joshua C Mell, Ira M Hall
发表日期
2010/5/1
期刊
Genome research
卷号
20
期号
5
页码范围
623-635
出版商
Cold Spring Harbor Lab
简介
Structural variation (SV) is a rich source of genetic diversity in mammals, but due to the challenges associated with mapping SV in complex genomes, basic questions regarding their genomic distribution and mechanistic origins remain unanswered. We have developed an algorithm (HYDRA) to localize SV breakpoints by paired-end mapping, and a general approach for the genome-wide assembly and interpretation of breakpoint sequences. We applied these methods to two inbred mouse strains: C57BL/6J and DBA/2J. We demonstrate that HYDRA accurately maps diverse classes of SV, including those involving repetitive elements such as transposons and segmental duplications; however, our analysis of the C57BL/6J reference strain shows that incomplete reference genome assemblies are a major source of noise. We report 7196 SVs between the two strains, more than two-thirds of which are due to …
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