公开(公告)号：US20140370504A1

公开(公告)日：2014-12-18

申请号：US14369615

申请日：2011-12-31

申请人： Shengpei Chen ,  Chunlei Zhang ,  Fang Chen ,  Weiwei Xie ,  Xiaoyu Pan ,  Jian Wang ,  Jun Wang ,  Huanming Yang ,  Xiuqing Zhang

发明人： Shengpei Chen ,  Chunlei Zhang ,  Fang Chen ,  Weiwei Xie ,  Xiaoyu Pan ,  Jian Wang ,  Jun Wang ,  Huanming Yang ,  Xiuqing Zhang

IPC分类号： G06F19/22 ,  G06F17/18 ,  C12Q1/68

CPC分类号： G16B30/00 ,  C12Q1/6809 ,  C12Q1/6869 ,  G06F17/18 ,  C12Q2535/122 ,  C12Q2537/16 ,  C12Q2537/165

摘要： The present invention relates to a method for detecting genetic variation, comprising the following steps: acquiring reads from a test sample; aligning said reads with a reference genome sequence; dividing said reference genome sequence into windows, calculating the number of said reads which are aligned to each window, and acquiring the statistic for each window on the basis of the number of said reads; and for a fragment of the reference genome sequence, acquiring the genetic variation sites on the basis of the change in the statistics of all the windows thereon in the fragment of the reference genome sequence.

摘要翻译： 本发明涉及一种检测遗传变异的方法，包括以下步骤：从测试样品获取读数; 将所述读数与参考基因组序列对齐; 将所述参考基因组序列划分为窗口，计算与每个窗口对齐的所述读取的数量，并且基于所述读取的数量获取每个窗口的统计量; 并且对于参考基因组序列的片段，基于参考基因组序列的片段中所有窗口的统计学变化来获取遗传变异位点。

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。

公开(公告)号：US20140274745A1

公开(公告)日：2014-09-18

申请号：US14354109

申请日：2011-10-28

申请人： Fang Chen ,  Xiaoyu Pan ,  Shengpei Chen ,  Xuchao Li ,  Hui Jiang ,  Xiuqing Zhang

发明人： Fang Chen ,  Xiaoyu Pan ,  Shengpei Chen ,  Xuchao Li ,  Hui Jiang ,  Xiuqing Zhang

IPC分类号： C12Q1/68 ,  G06F19/22

CPC分类号： C12Q1/6874 ,  C12Q1/6883 ,  C12Q2600/156 ,  G16B30/00

摘要： The present invention relates to the field of genomic mutation detection, and in particular, to the detection of the copy number variation (CNV) in cellular chromosomal DNA fragments. The present invention also relates to the detection of diseases related to the copy number variation in the cellular chromosomal DNA fragments.

摘要翻译： 本发明涉及基因组突变检测领域，特别涉及检测细胞染色体DNA片段中的拷贝数变异（CNV）。 本发明还涉及与细胞染色体DNA片段的拷贝数变异相关的疾病的检测。