检测突变簇的方法和装置制造方法及图纸

本发明专利技术公开一种检测突变簇的方法，该方法包括：获取待测样本的突变数据，突变数据包括N个SNP在参考序列上的位置信息；将参考序列划分为多个多重重叠窗口，使每个窗口包含Num个SNP；弃去不符合(a)和/或(b)的窗口，获得第一候选突变簇，(a)窗口的大小D＜Len，Len为预定的Num个SNP突变间距阈值，Len≤ADL，ADL为1/Num的平均突变间距，i为SNP在参考序列上的编号，di为SNPi的突变间距，SNPi的突变间距为参考序列上SNPi到SNPi+1或SNPi‑1的距离，(b)窗口的突变密度显著高于待测样本整体的突变密度；合并有重叠的第一候选突变簇。

Method and apparatus for detecting mutant clusters

The invention discloses a method for detecting mutations of clusters, the method includes: obtaining the mutation data sample, mutation data includes the position information of N SNP in the reference sequence; the reference sequence is divided into a plurality of multiple overlapping windows, each window contains a Num SNP; discard does not comply with (a) and or (b) window, won the first candidate mutation cluster (a) window size D < Len, Len for a predetermined Num SNP mutation distance threshold, Len = ADL, ADL is the average distance of 1/Num mutation, I SNP in the reference sequence number di SNPi mutation distance SNPi, mutation spacing as reference sequence on SNPi to SNPi+1 or SNPi 1 distance (b) mutation density window was significantly higher than that of the whole sample mutation density to be tested; with the first candidate overlapping mutation cluster.

【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：宋彬，李波，侯勇，刘耿，
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