Method for assigning target-enriched sequence reads to a genomic location

将靶标富集的序列读出分配到基因组位置的方法

Abstract

本发明涉及将靶标富集的序列读出分配到基因组位置的方法。本文提供用于将序列读出分配到基因组位置的计算机实施方法等等,所述方法包括:a)访问含有序列读出的文件,其中所述序列读出获得自已通过与多个捕获序列杂交而被富集的核酸样品;和b)通过下述将所述序列读出分配到基因组位置:i)如果所述序列读出包含捕获序列的一个或多个子序列,则将捕获序列识别为所述序列读出的匹配;ii)使用计算机计算指示每个匹配的捕获序列和序列读出之间的序列相似性程度的评分;和iii)如果对匹配的捕获序列计算的评分高于阈值,则将序列读出分配到基因组位置。
The invention relates to a method for assigning target-enriched sequence reads to a genomic location. Provided herein, among other things, is a computer-implemented method for assigning a sequence read to a genomic location, the method including: a) accessing a file containing a sequence read, wherein the sequence read is obtained from a nucleic acid sample that has been enriched by hybridization to a plurality of capture sequences; and b) assigning the sequence read to a genomic location by: i) identifying a capture sequence as being a match with the sequence read if the sequence read contains one or more subsequences of the capture sequence; ii) calculating, using a computer, a score indicating the degree of sequence similarity between each of the matched capture sequences and the sequence read; and iii) assigning the sequence read to the genomic location if the calculated score for a matched capture sequence is above a threshold.

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