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NovoStitch: accurate reconciliation of genome assemblies via optical maps

机译:Novo&Stitch:通过光学图谱精确核对基因组装配

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摘要

Motivation De novo genome assembly is a challenging computational problem due to the high repetitive content of eukaryotic genomes and the imperfections of sequencing technologies (i.e. sequencing errors, uneven sequencing coverage and chimeric reads). Several assembly tools are currently available, each of which has strengths and weaknesses in dealing with the trade-off between maximizing contiguity and minimizing assembly errors (e.g. mis-joins). To obtain the best possible assembly, it is common practice to generate multiple assemblies from several assemblers and/or parameter settings and try to identify the highest quality assembly. Unfortunately, often there is no assembly that both maximizes contiguity and minimizes assembly errors, so one has to compromise one for the other.
机译:动机从头进行基因组组装是一个具有挑战性的计算问题,因为真核基因组的重复性很高,而且测序技术不完善(即测序错误,测序覆盖率不均和嵌合读段)。当前有几种组装工具,每种工具在处理连续性最大化和最小化组装错误(例如错接)之间的权衡时各有优缺点。为了获得最佳组装,通常的做法是从多个组装器和/或参数设置生成多个组装,并尝试确定最高质量的组装。不幸的是,通常没有一种装配既能使连续性最大化又能使装配错误最小化,因此,一个必须为另一个折衷。

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