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  • 文章类型: Journal Article
    作为一种常见的结构变异,插入是指将DNA序列添加到个体基因组中,通常与一些遗传性疾病有关。近年来,已经提出了许多方法来检测插入。然而,插入的准确调用也是一项具有挑战性的任务。在这项研究中,我们提出了一种新的基于软剪切读取的插入检测方法,这叫做SIns。首先,基于配对读段和参考基因组之间的比对,SIns从软剪切读段中提取断点并确定插入位置。然后将有关配对读段的插入大小信息进一步聚类以确定基因型,SIns随后采用Minia来组装插入序列。实验结果表明,就模拟和真实数据集的F得分而言,SIns可以比其他方法获得更好的性能。
    As a common type of structural variation, an insertion refers to the addition of a DNA sequence into an individual genome and is usually associated with some inherited diseases. In recent years, many methods have been proposed for detecting insertions. However, the accurate calling of insertions is also a challenging task. In this study, we propose a novel insertion detection approach based on soft-clipped reads, which is called SIns. First, based on the alignments between paired reads and the reference genome, SIns extracts breakpoints from soft-clipped reads and determines insertion locations. The insert size information about paired reads is then further clustered to determine the genotype, and SIns subsequently adopts Minia to assemble the insertion sequences. Experimental results show that SIns can achieve better performance than other methods in terms of the F-score value for simulated and true datasets.
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