确定探针序列的方法和基因组结构变异的检测方法技术

本发明专利技术提供了基于参考序列确定探针序列的方法和基因组结构变异的检测方法。其中，基于参考序列确定探针序列的方法包括：基于多个离散高频SNP位点，构建第一候选探针集，第一候选探针集由多个候选探针构成，并且多个候选探针中的每一个均含有至少一个离散高频SNP；将第一候选探针集中的多个候选探针与参考序列进行比对，以便获得比对结果；基于比对结果，对第一候选探针集进行第一筛选，获得第二候选探针集；将参考序列划分为多个具有预定长度的窗口，分别将第二候选探针集中的多个候选探针分配至各自匹配的窗口，以确定多个候选探针各自的位置信息；基于所说的位置信息以及离散高频SNP的等位基因频率，对第二候选探针集进行第二筛选，以便确定所述探针序列。

Method for determining probe sequences and method for detecting genome structure variation

The present invention provides a method for determining a probe sequence based on a reference sequence and a detection method for genome structural variation. Among them, the reference sequence includes determining method of probe based on the sequence of a plurality of discrete frequency SNP sites based on the construction of the first set of candidate probes, the first candidate probe set is composed of a plurality of candidate probes, and a plurality of candidate probes each containing at least one discrete frequency SNP; the first candidate probe concentration multiple the candidate probe and reference sequences are compared, in order to obtain the results; based on the comparison result, the first screening of the first candidate probe sets, second sets of candidate probes; the reference sequence is divided into a plurality of predetermined length of the window, then second candidate probes concentrated multiple candidate probes, each assigned to the window to determine the location information of a plurality of candidate probes respectively; the position information and the discrete frequency SNP based on allele frequencies, second candidate probe A needle set is subjected to a second screening to determine the probe sequence.

【技术实现步骤摘要】
【国外来华专利技术】PCT国内申请，说明书已公开。

【技术保护点】
PCT国内申请，权利要求书已公开。

【技术特征摘要】
【国外来华专利技术】PCT国内申请，...

【专利技术属性】
技术研发人员：李剑，王煜，李尉，李金良，赵霞，陈仕平，张现东，刘赛军，
申请(专利权)人：深圳华大基因股份有限公司，
类型：发明
国别省市：广东,44