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    • 15. 发明申请
    • METHOD AND SYSTEM FOR DETERMINING COPY NUMBER VARIATION
    • 用于确定复制数变化的方法和系统
    • US20150056619A1
    • 2015-02-26
    • US14389898
    • 2012-04-05
    • Xuchao LiShengpei ChenFang ChenWeiwei XieJian WangJun WangHuanming YangXiuqing Zhang
    • Xuchao LiShengpei ChenFang ChenWeiwei XieJian WangJun WangHuanming YangXiuqing Zhang
    • C12Q1/68
    • C12Q1/68C12Q1/6869C12Q2535/122C12Q2537/165G16B15/00G16B30/00G16C99/00
    • 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.
    • 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。
    • 17. 发明申请
    • CONSTRUCTION METHOD AND SYSTEM OF FRAGMENTS ASSEMBLING SCAFFOLD, AND GENOME SEQUENCING DEVICE
    • 构建方法和组装系统,组装程序和基因测序装置
    • US20110288845A1
    • 2011-11-24
    • US13132027
    • 2009-12-11
    • Peixiang NiXiaodong FangJun WangHuanming YangJian Wang
    • Peixiang NiXiaodong FangJun WangHuanming YangJian Wang
    • G06G7/48
    • G16B30/00
    • The present invention relates to gene engineering filed, and provides a genome sequencing device, construction method of fragments assembling scaffold and system thereof. The method comprises the following steps: mapping the double-barreled data obtained through sequencing to contigs; calculating the mean length between contigs based on multiple pairs of double-barreled data mapped to contigs, which is taken as the gap size between contigs; constructing scaffold based on gap size between contigs and the double-barreled relation between contigs; and obtaining complete scaffold graph. Since the mean length between contigs is calculated from multiple pairs of double-barreled data and is taken as the gap size between contigs, the estimation precision of gap size between contigs is improved greatly. It can be used for genome sequencing including short sequencing read length to finish task of assembling sequencing fragments.
    • 本发明涉及基因工程,提供基因组测序装置,片段组装脚手架及其系统的构建方法。 该方法包括以下步骤:将通过测序获得的双筒数据映射到重叠群; 基于映射到重叠群的多对双筒数据计算重叠群之间的平均长度,其被认为是重叠群之间的间隙大小; 基于重叠群之间的间隙大小和重叠群之间的双筒关系构建脚手架; 并获得完整的支架图。 由于重叠群之间的平均长度是由多对双筒数据计算的,作为重叠群之间的间隙大小,重叠群之间的间隙大小的估计精度大大提高。 它可用于基因组测序,包括短序列读取长度以完成组装测序片段的任务。