METHOD AND SYSTEM FOR DETERMINING COPY NUMBER VARIATION
    4.
    发明申请
    METHOD AND SYSTEM FOR DETERMINING COPY NUMBER VARIATION 审中-公开
    用于确定复制数变化的方法和系统

    公开(公告)号:US20150056619A1

    公开(公告)日:2015-02-26

    申请号:US14389898

    申请日:2012-04-05

    IPC分类号: C12Q1/68

    摘要: Disclosed are a method and a system for determining genome copy number variation, which relates to the technical field of bioinformatics. The method comprises obtaining reads; determining sequence labels according to the reads; counting the number of sequence labels falling into each window; performing GC correction on the sequence label number of each window and a correction according to an expected sequence label number adjusted by a control set to obtain a corrected sequence label number; selecting a demarcation point with a small significance value as a candidate CNV breaking point; rejecting the least significant candidate CNV breaking point at every turn, updating difference significance values of two candidate CNV breaking points on the left and right of the rejected candidate CNV breaking point and performing cyclic iteration until difference significance values of all candidate CNV breaking points are smaller than a termination threshold value, thereby determining a CNV breaking point. The method and the system the present invention have clinical feasibility, and can precisely detect a micro-deletion/micro-duplication area of 0.5 M under the situation of using data of about 50 M.

    摘要翻译: 公开了用于确定与生物信息学技术领域有关的基因组拷贝数变异的方法和系统。 该方法包括获取读数; 根据读数确定序列标签; 计算落入每个窗口的序列标签的数量; 对每个窗口的序列标签号执行GC校正,并根据由控制集调整的预期序列标号进行校正,以获得校正的序列标号; 选择具有较小重要性值的分界点作为候选CNV断点; 拒绝每一回合中最不重要的候选CNV断点,更新拒绝的候选CNV断点左侧和右侧的两个候选CNV断点的差异有效值,并执行循环迭代,直到所有候选CNV断点的差值显着值较小 比终止阈值,从而确定CNV断点。 本发明的方法和系统具有临床可行性,并且可以在使用约50M的数据的情况下精确地检测到0.5M的微缺失/微复制区域。