Detection and reconstruction of tandemly organized de novo copy number variations

摘要：

Background: The characterization of structural variations (SV) such as insertions, deletions and copy number variations is a critical step in the process of understanding the full genetic architecture of organisms. Copy number variations (CNV) have attracted much recent attention due to their effects on gene expression and disease status. Results: In this paper, we present a method that utilizes next-generation sequencing technologies (NGS), in order to both detect and reconstruct CNVs. We focus on a special type of CNV, namely tandemly organized de novo CNVs, which have been shown to occur with high frequency in the mouse genome. Conclusions: We apply our method to CNV regions randomly inserted into the reference mouse genome and show that our method achieves good performance for both detection and reconstruction of tandemly organized de novo CNVs.

作者: Dan He Nicholas Furlotte Eleazar Eskin

作者单位: Dept. of Comp. Sci., Univ. of California Los Angeles, Los Angeles, CA 90095,USA Dept. of Comp. Sci., Univ. of California Los Angeles, Los Angeles, CA 90095, USA

会议类型: 国际会议

会议名称: 第二十一届国际基因组信息学大会

会议地点: 上海

会议语种:英文

页码: 32-39

在线出版日期: 2010-12-06（万方平台首次上网日期，不代表论文的发表时间）