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Improving the sensitivity of long read overlap detection using grouped short k-mer matches

机译:使用分组的短k-mer匹配提高长读重叠检测的灵敏度

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摘要

BackgroundSingle-molecule, real-time sequencing (SMRT) developed by Pacific BioSciences produces longer reads than second-generation sequencing technologies such as Illumina. The increased read length enables PacBio sequencing to close gaps in genome assembly, reveal structural variations, and characterize the intra-species variations. It also holds the promise to decipher the community structure in complex microbial communities because long reads help metagenomic assembly. One key step in genome assembly using long reads is to quickly identify reads forming overlaps. Because PacBio data has higher sequencing error rate and lower coverage than popular short read sequencing technologies (such as Illumina), efficient detection of true overlaps requires specially designed algorithms. In particular, there is still a need to improve the sensitivity of detecting small overlaps or overlaps with high error rates in both reads. Addressing this need will enable better assembly for metagenomic data produced by third-generation sequencing technologies.
机译:背景技术Pacific BioSciences开发的单分子实时测序(SMRT)比第二代测序技术(如Illumina)产生更长的读取时间。增加的阅读长度使PacBio测序能够缩小基因组装配中的缺口,揭示结构变异并表征种内变异。它也有望破译复杂微生物群落中的群落结构,因为长读有助于宏基因组学组装。使用长读段进行基因组组装的一个关键步骤是快速识别形成重叠的读段。因为PacBio数据比流行的短读测序技术(例如Illumina)具有更高的测序错误率和更低的覆盖率,所以有效检测真实重叠需要特殊设计的算法。特别地,仍然需要提高在两个读取中检测小的重叠或具有高错误率的重叠的灵敏度。满足这一需求将使第三代测序技术产生的宏基因组数据更好地组合在一起。

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