公开(公告)号：US09238840B2

公开(公告)日：2016-01-19

申请号：US13976845

申请日：2011-12-29

申请人： Xuyang Yin ,  Li Bao ,  Xun Xu ,  Hanjie Wu ,  Xiaoyu Liu ,  Xiuqing Zhang ,  Huanming Yang

发明人： Xuyang Yin ,  Li Bao ,  Xun Xu ,  Hanjie Wu ,  Xiaoyu Liu ,  Xiuqing Zhang ,  Huanming Yang

IPC分类号： C12Q1/68

CPC分类号： C12Q1/6888 ,  C12Q1/6806 ,  C12Q1/6851 ,  C12Q1/6869 ,  C12Q1/6876 ,  C12Q2600/166 ,  C12Q2531/119 ,  C12Q2545/101

摘要： A method for analyzing a genome of a single cell is provided, and a kit is also provided. The method for analyzing the genome of the single cell may comprise separating and lysing the single cell to obtain a whole-genome DNA of the cell; subjecting the whole-genome DNA to a whole-genome amplification to obtain a whole-genome amplification product; performing a PCR amplification using the whole-genome amplification product as template and using housekeeping-gene-specific primers to detect the housekeeping gene of the whole-genome amplification product; and determining whether the whole genome amplification product meets a requirement for sequencing based on the detection result, wherein a uniform distribution of the amplification product in each chromosome is an indication of the amplification product meeting the requirement for sequencing.

摘要翻译： 提供了用于分析单细胞的基因组的方法，并且还提供了试剂盒。 用于分析单细胞基因组的方法可以包括分离和裂解单细胞以获得细胞的全基因组DNA; 对全基因组DNA进行全基因组扩增以获得全基因组扩增产物; 使用全基因组扩增产物作为模板进行PCR扩增，并使用管家基因特异性引物检测全基因组扩增产物的管家基因; 并且基于检测结果确定全基因组扩增产物是否满足测序要求，其中扩增产物在每个染色体中的均匀分布是满足测序要求的扩增产物的指示。

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。

公开(公告)号：US20140017683A1

公开(公告)日：2014-01-16

申请号：US13976845

申请日：2011-12-29

申请人： Xuyang Yin ,  Li Bao ,  Xun Xu ,  Hanjie Wu ,  Xiaoyu Liu ,  Xiuqing Zhang ,  Huanming Yang

发明人： Xuyang Yin ,  Li Bao ,  Xun Xu ,  Hanjie Wu ,  Xiaoyu Liu ,  Xiuqing Zhang ,  Huanming Yang

IPC分类号： C12Q1/68

CPC分类号： C12Q1/6888 ,  C12Q1/6806 ,  C12Q1/6851 ,  C12Q1/6869 ,  C12Q1/6876 ,  C12Q2600/166 ,  C12Q2531/119 ,  C12Q2545/101

摘要： A method for analyzing a genome of a single cell is provided, and a kit is also provided. The method for analyzing the genome of the single cell may comprise separating and lysing the single cell to obtain a whole-genome DNA of the cell; subjecting the whole-genome DNA to a whole-genome amplification to obtain a whole-genome amplification product; performing a PCR amplification using the whole-genome amplification product as template and using housekeeping-gene-specific primers to detect the housekeeping gene of the whole-genome amplification product; and determining whether the whole genome amplification product meets a requirement for sequencing based on the detection result, wherein a uniform distribution of the amplification product in each chromosome is an indication of the amplification product meeting the requirement for sequencing.

摘要翻译： 提供了用于分析单细胞的基因组的方法，并且还提供了试剂盒。 用于分析单细胞基因组的方法可以包括分离和裂解单细胞以获得细胞的全基因组DNA; 对全基因组DNA进行全基因组扩增以获得全基因组扩增产物; 使用全基因组扩增产物作为模板进行PCR扩增，并使用管家基因特异性引物检测全基因组扩增产物的管家基因; 并且基于检测结果确定全基因组扩增产物是否满足测序要求，其中扩增产物在每个染色体中的均匀分布是满足测序要求的扩增产物的指示。

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。