公开(公告)号：US20160125130A1

公开(公告)日：2016-05-05

申请号：US14533743

申请日：2014-11-05

Applicant: Agilent Technologies, Inc.

Inventor： Christian A. Le Cocq ,  Magnus Isaksson ,  Ashutosh ,  Linus Forsmark

IPC: G06F19/22

CPC classification number: G16B30/00

Abstract: 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.

Abstract translation: 本文提供了一种用于将读取的序列分配给基因组位置的计算机实现的方法，所述方法包括：a）访问包含读取序列的文件，其中读取的序列是从具有 通过与多个捕获序列的杂交而富集; 和b）通过以下操作将读取的序列分配到基因组位置：i）如果读取的序列包含捕获序列的一个或多个子序列，则将捕获序列识别为与读取的序列匹配; ii）使用计算机计算指示每个匹配捕获序列与读取的序列之间的序列相似度的分数; 以及iii）如果匹配捕获序列的计算得分高于阈值，则将读取的序列分配给基因组位置。