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SEME: A Fast Mapper of Illumina Sequencing Reads with Statistical Evaluation

机译:SEME:Illumina测序的快速映射器具有统计评估功能

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摘要

>Mapping reads to a reference genome is a routine yet computationally intensive task in research based on high-throughput sequencing. In recent years, the sequencing reads of the Illumina platform have become longer and their quality scores higher. According to our calculation, this allows perfect k-mer seed match for almost all reads when a close reference genome is available subject to reasonable specificity. Our other observation is that the majority reads contain at most one short INDEL polymorphism. Based on these observations, we propose a fast-mapping approach, referred to as “SEME,” which has two core steps: First it scans a read sequentially in a specific order for a k-mer exact match seed; next it extends the alignment on both sides allowing, at most, one short INDEL each using a novel method called “auto-match function.” We decompose the evaluation of the sensitivity and specificity into two parts corresponding to the seed and extension step, and the composite result provides an approximate overall reliability estimate of each mapping. We compare SEME with some existing mapping methods on several datasets, and SEME shows better performance in terms of both running time and mapping rates.
机译:>在基于高通量测序的研究中,将读数映射到参考基因组是一项常规但计算量大的任务。近年来,Illumina平台的测序读取变得更长,并且其质量得分更高。根据我们的计算,当可获得接近的参考基因组且具有合理的特异性时,这几乎可以对几乎所有读数进行完美的k-mer种子匹配。我们的另一观察结果是,大多数读段最多包含一个短的INDEL多态性。基于这些观察结果,我们提出了一种称为“ SEME”的快速映射方法,该方法具有两个核心步骤:首先,它以特定顺序顺序扫描读取的k-mer精确匹配种子。接下来,它扩展了两侧的对齐方式,使用一种称为“自动匹配功能”的新颖方法,最多允许一个简短的INDEL。我们将敏感性和特异性的评估分解为与种子和延伸步骤相对应的两个部分,综合结果提供了每个图谱的大致总体可靠性估计。我们将SEME与一些现有数据集上的某些映射方法进行了比较,并且SEME在运行时间和映射速率方面均表现出更好的性能

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