Slider--maximum use of probability information for alignment of short sequence reads and SNP detection.

Slider--maximum use of probability information for alignment of short sequence reads and SNP detection.
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DOI:
10.1093/bioinformatics/btn565
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发表时间:
2009-01-01
期刊:
Bioinformatics (Oxford, England)
影响因子:
--
通讯作者:
Jones SJ
Jones SJ
中科院分区:
其他
文献类型:
--
作者:
Malhis N;Butterfield YS;Ester M;Jones SJ

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动机:已经创建了大量的对齐工具,这些工具被设计为最适合不同类型的对齐条件。虽然其中一些是用于比对Illumina序列分析仪读数,但这些都没有充分利用其概率(prb)输出。在本文中,我们将介绍一种新的比对方法(Slider),它通过利用prb文件中给出的每个读段碱基的概率来减少比对问题的空间。结果:Slider具有较高的对准精度和效率。此外,由于Slider匹配的碱基的概率不是最可能的,因此它显著降低了碱基错配的百分比。其结果是,它的SNP预测比目前使用的其他SNP预测方法更准确,这些方法从最可能的序列开始,包括使用碱基质量的方法。联系方式:nmalhis@bcgsc.ca补充信息和可用性:http://www.bcgsc.ca/platform/bioinfo/software/slider
Motivation: A plethora of alignment tools have been created that are designed to best fit different types of alignment conditions. While some of these are made for aligning Illumina Sequence Analyzer reads, none of these are fully utilizing its probability (prb) output. In this article, we will introduce a new alignment approach (Slider) that reduces the alignment problem space by utilizing each read base's probabilities given in the prb files. Results: Compared with other aligners, Slider has higher alignment accuracy and efficiency. In addition, given that Slider matches bases with probabilities other than the most probable, it significantly reduces the percentage of base mismatches. The result is that its SNP predictions are more accurate than other SNP prediction approaches used today that start from the most probable sequence, including those using base quality. Contact: nmalhis@bcgsc.ca Supplementary information and availability: http://www.bcgsc.ca/platform/bioinfo/software/slider
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