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Heap: a highly sensitive and accurate SNP detection tool for low-coverage high-throughput sequencing data

机译:堆:一种高灵敏准确的SNP检测工具用于低覆盖率高通量测序数据

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摘要

Recent availability of large-scale genomic resources enables us to conduct so called genome-wide association studies (GWAS) and genomic prediction (GP) studies, particularly with next-generation sequencing (NGS) data. The effectiveness of GWAS and GP depends on not only their mathematical models, but the quality and quantity of variants employed in the analysis. In NGS single nucleotide polymorphism (SNP) calling, conventional tools ideally require more reads for higher SNP sensitivity and accuracy. In this study, we aimed to develop a tool, Heap, that enables robustly sensitive and accurate calling of SNPs, particularly with a low coverage NGS data, which must be aligned to the reference genome sequences in advance. To reduce false positive SNPs, Heap determines genotypes and calls SNPs at each site except for sites at the both ends of reads or containing a minor allele supported by only one read. Performance comparison with existing tools showed that Heap achieved the highest F-scores with low coverage (7X) restriction-site associated DNA sequencing reads of sorghum and rice individuals. This will facilitate cost-effective GWAS and GP studies in this NGS era. Code and documentation of Heap are freely available from (29 March 2017, date last accessed) and our web site ( (29 March 2017, date last accessed)).
机译:大规模基因组资源的最新可用性使我们能够开展所谓的全基因组关联研究(GWAS)和基因组预测(GP)研究,尤其是利用下一代测序(NGS)数据。 GWAS和GP的有效性不仅取决于它们的数学模型,还取决于分析中使用的变体的质量和数量。在NGS单核苷酸多态性(SNP)调用中,理想情况下,常规工具需要更多读取才能获得更高的SNP灵敏度和准确性。在这项研究中,我们旨在开发一种工具Heap,该工具可实现灵敏而准确的SNP调用,尤其是使用低覆盖率的NGS数据时,必须事先与参考基因组序列进行比对。为了减少假阳性SNP,Heap会确定基因型并在每个位点调用SNP,除了读段两端的位点或仅包含一个读段的次要等位基因。与现有工具的性能比较显示,Heap获得了最高的F分数,并且对高粱和水稻个体进行了低覆盖(7X)限制位点相关的DNA测序读取。这将有助于在这个NGS时代进行具有成本效益的GWAS和GP研究。可从(2017年3月29日,最后访问日期)和我们的网站((2017年3月29日,最后访问日期))免费获得Heap的代码和文档。

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