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Featherweight long read alignment using partitioned reference indexes

机译:使用分区参考索引的羽量级长读取对齐

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The advent of Nanopore sequencing has realised portable genomic research and applications. However, state of the art long read aligners and large reference genomes are not compatible with most mobile computing devices due to their high memory requirements. We show how memory requirements can be reduced through parameter optimisation and reference genome partitioning, but highlight the associated limitations and caveats of these approaches. We then demonstrate how these issues can be overcome through an appropriate merging technique. We incorporated multi-index merging into the Minimap2 aligner and demonstrate that long read alignment to the human genome can be performed on a system with 2?GB RAM with negligible impact on accuracy.
机译:纳米孔测序的出现实现了便携式基因组研究和应用。然而,由于其高存储器要求,最重要的长读对准器和大的参考基因组与大多数移动计算设备不兼容。我们展示了通过参数优化和参考基因组分区可以减少内存要求,但突出了这些方法的相关限制和警告。然后,我们展示通过适当的合并技术可以克服这些问题。我们将多索引合并到Minimap2对准器中,并证明可以对人类基因组的长读取对准在具有2Ω·GB RAM的系统上,对准确性的影响可忽略不计。

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