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Detection and characterization of novel sequence insertions using paired-end next-generation sequencing

机译:使用新一代双末端测序技术检测和鉴定新型序列

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摘要

Motivation: In the past few years, human genome structural variation discovery has enjoyed increased attention from the genomics research community. Many studies were published to characterize short insertions, deletions, duplications and inversions, and associate copy number variants (CNVs) with disease. Detection of new sequence insertions requires sequence data, however, the ‘detectable’ sequence length with read-pair analysis is limited by the insert size. Thus, longer sequence insertions that contribute to our genetic makeup are not extensively researched.
机译:动机:在过去的几年中,人类基因组结构变异的发现受到了基因组学研究界的越来越多的关注。已经发表了许多研究来表征短插入,缺失,重复和倒置,以及将拷贝数变异体(CNV)与疾病相关联。检测新的序列插入需要序列数据,但是,使用读对分析的“可检测”序列长度受插入大小限制。因此,没有广泛研究有助于我们的基因组成的更长的序列插入。

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