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Detection and correction of false segmental duplications caused by genome mis-assembly

机译:检测和纠正由基因组错误组装引起的错误节段重复

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Diploid genomes with divergent chromosomes present special problems for assembly software as two copies of especially polymorphic regions may be mistakenly constructed, creating the appearance of a recent segmental duplication. We developed a method for identifying such false duplications and applied it to four vertebrate genomes. For each genome, we corrected mis-assemblies, improved estimates of the amount of duplicated sequence, and recovered polymorphisms between the sequenced chromosomes.
机译:具有不同染色体的二倍体基因组给组装软件带来了特殊的问题,因为可能会错误地构建两个特别是多态区域的副本,从而产生最近的片段重复。我们开发了一种识别此类错误重复的方法,并将其应用于四个脊椎动物基因组。对于每个基因组,我们纠正了错配,改进了重复序列数量的估计,并恢复了测序染色体之间的多态性。

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