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    METHOD AND SYSTEM FOR DETERMINING WHETHER COPY NUMBER VARIATION EXISTS IN SAMPLE GENOME, AND COMPUTER READABLE MEDIUM
    2.
    发明申请
    METHOD AND SYSTEM FOR DETERMINING WHETHER COPY NUMBER VARIATION EXISTS IN SAMPLE GENOME, AND COMPUTER READABLE MEDIUM 审中-公开
    用于确定样品基因组中复制数量变化现象的方法和系统以及计算机可读介质

    公开(公告)号：US20150012252A1

    公开(公告)日：2015-01-08

    申请号：US14373072

    申请日：2012-01-20

    申请人： Xuyang Yin ,  Chunlei Zhang ,  Shengpei Chen ,  Chunsheng Zhang ,  Xiaoyu Pan ,  Hui Jiang ,  Xiuqing Zhang

    发明人： Xuyang Yin ,  Chunlei Zhang ,  Shengpei Chen ,  Chunsheng Zhang ,  Xiaoyu Pan ,  Hui Jiang ,  Xiuqing Zhang

    IPC分类号： G06F19/12 ,  G06F17/50

    CPC分类号： G16B5/00 ,  C12Q1/6809 ,  G06F17/5009 ,  G16B30/00 ,  C12Q2535/122 ,  C12Q2537/16 ,  C12Q2537/165

    摘要： Provided are a method, system, and computer-readable medium for determining whether a copy number variation exists in a sample genome. The method includes sequencing a sample genome to obtain a sequencing result formed by multiple reads; comparing the sequencing result with a reference genome sequence to determine the distribution of the reads on the reference genome sequence; determining, based on the distribution of the reads on the reference genome sequence, multiple breakpoints on the reference genome sequence, wherein the number of the reads on either side of each breakpoint are significantly different; determining, based on the plurality of breakpoints, a detection window on the reference genome; determining, based on the reads falling in the detection window, a parameter; and determining, based on the difference between the first parameter and a preset threshold, whether a copy number variation exists in the sample genome against the detection window.

    摘要翻译： 提供了用于确定样本基因组中是否存在拷贝数变异的方法，系统和计算机可读介质。 该方法包括对样品基因组进行测序以获得通过多次读取形成的测序结果; 将测序结果与参考基因组序列进行比较，以确定参考基因组序列上读数的分布; 基于参考基因组序列上的读数的分布来确定参考基因组序列上的多个断点，其中每个断点的任一侧的读数显着不同; 基于所述多个断点确定所述参考基因组上的检测窗口; 基于落在检测窗口中的读取来确定参数; 以及基于所述第一参数和预设阈值之间的差来确定所述样本基因组中是否存在根据所述检测窗口的拷贝数变异。

    METHOD AND SYSTEM FOR DETERMINING COPY NUMBER VARIATION
    3.
    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

    申请人： Xuchao Li ,  Shengpei Chen ,  Fang Chen ,  Weiwei Xie ,  Jian Wang ,  Jun Wang ,  Huanming Yang ,  Xiuqing Zhang

    发明人： Xuchao Li ,  Shengpei Chen ,  Fang Chen ,  Weiwei Xie ,  Jian Wang ,  Jun Wang ,  Huanming Yang ,  Xiuqing Zhang

    IPC分类号： C12Q1/68

    CPC分类号： C12Q1/68 ,  C12Q1/6869 ,  C12Q2535/122 ,  C12Q2537/165 ,  G16B15/00 ,  G16B30/00 ,  G16C99/00

    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。

    METHOD AND SYSTEM FOR DETERMINING CHROMOSOME ANEUPLOIDY OF SINGLE CELL
    6.
    发明申请
    METHOD AND SYSTEM FOR DETERMINING CHROMOSOME ANEUPLOIDY OF SINGLE CELL 审中-公开
    用于确定单细胞色素沉着异常的方法和系统

    公开(公告)号：US20140228226A1

    公开(公告)日：2014-08-14

    申请号：US14346067

    申请日：2011-09-21

    申请人： Xuyang Yin ,  Chunlei Zhang ,  Yong Qiu ,  Shengpei Chen ,  Hui Jiang ,  Jun Wang ,  Jian Wang

    发明人： Xuyang Yin ,  Chunlei Zhang ,  Yong Qiu ,  Shengpei Chen ,  Hui Jiang ,  Jun Wang ,  Jian Wang

    IPC分类号： G06F19/22 ,  C12Q1/68

    CPC分类号： G16B30/00 ,  C12Q1/6869 ,  C12Q1/6881 ,  C12Q1/6883 ,  C12Q2600/156

    摘要： Disclosed is a method for determining the chromosome aneuploidy of a single cell and a system for determining the chromosome aneuploidy of a single cell. Among them, the method for determining the chromosome aneuploidy of a single cell according to the embodiments of the present invention comprises: the whole genome of the single cell is sequenced to obtain a first sequencing result; the total number of sequencing data from the first sequencing result is counted, obtaining a value L; the number of sequencing data of a first chromosome from the first sequencing result is counted, obtaining a value M; a first parameter is determined based on the value L and the value M; and it is determined whether or not the single cell has aneuploidy in respect of the first chromosome based on the difference between the first parameter and a predetermined control parameter.

    摘要翻译： 公开了一种用于确定单个细胞的染色体非整倍性的方法和用于确定单细胞的染色体非整倍性的系统。 其中，根据本发明实施方案的单细胞染色体非整倍性测定方法包括：对单细胞的全基因组进行测序以获得第一测序结果; 计算来自第一测序结果的测序数据的总数，获得值L; 对来自第一测序结果的第一染色体的测序数据的数量进行计数，获得值M; 基于值L和值M确定第一参数; 并且基于第一参数和预定控制参数之间的差来确定单细胞是否相对于第一染色体具有非整倍体。