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Suppression of errors in sequencing DNA fragments using redundant reads with specific molecular index (UMI)

机译:使用具有特定分子索引(UMI)的冗余读取来抑制DNA片段测序中的错误

摘要

The disclosed embodiments are for determining a sequence of interest using a specific molecular index (UMI) sequence that is specifically associated with an individual polynucleotide fragment, including sequences with low allele frequency and long sequence length. The present invention relates to methods, apparatus, systems, and computer program products. In some embodiments, the UMI comprises both a physical (exogenous) UMI, eg, introduced using a Y-type adapter, and a virtual (endogenous) UMI present in the DNA fragment being sequenced. Including. In some embodiments, the specific molecular index sequence comprises a non-random sequence. Systems, apparatus, and computer program products for performing the disclosed methods to determine a sequence of interest are also provided. [Selection] Figure 3B
机译:所公开的实施方案用于使用与单个多核苷酸片段特异性相关的特定分子索引(UMI)序列来确定目的序列,所述分子序列包括低等位基因频率和长序列长度的序列。本发明涉及方法,装置,系统和计算机程序产品。在一些实施方案中,UMI既包括物理的(外源)UMI(例如,使用Y型接头引入),也包括存在于被测序的DNA片段中的虚拟的(内源性)UMI。包含。在一些实施方案中,特异性分子索引序列包括非随机序列。还提供了用于执行所公开的方法以确定感兴趣序列的系统,装置和计算机程序产品。 [选择]图3B

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