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COPY NUMBER MEASUREMENT DEVICE, COPY NUMBER MEASUREMENT PROGRAM, COPY NUMBER MEASUREMENT METHOD AND GENE PANEL

机译:拷贝数测量装置,拷贝数测量程序,拷贝数测量方法和基因组

摘要

To enable the correct copy number to be obtained in the target sequence.SOLUTION: A position identification unit 110 identifies the target position being the genome position of the base changing with respect to the human genomic sequence for each target gene by mapping a plurality of tumor sample reeds in the human genomic sequence. A frequency calculation unit 120 calculates a variant allele frequency for each target position of each target gene. A distance calculation unit 130 calculates a feature distance equivalent to the difference between the variant allele frequency corresponding to the peak density in the density distribution indicating the density with respect to the variant allele frequency of the mapping reed number and the reference variant allele frequency for each target gene. A coefficient calculation unit 140 calculates a correction coefficient using the feature distance for each target gene. A copy number calculation unit 150 calculates the copy number for each target gene in the cancer cell using the copy number and correction coefficient for each target gene in the tumor sample.SELECTED DRAWING: Figure 1
机译:为了能够在靶序列中获得正确的拷贝数。解决方案:位置识别单元110通过绘制多个肿瘤,针对每个靶基因识别作为相对于人类基因组序列变化的碱基的基因组位置的靶位置。人类基因组序列中的样本芦苇。频率计算单元120针对每个靶基因的每个靶位置计算变异等位基因频率。距离计算单元130计算特征距离,该特征距离等于与密度分布中的峰值密度相对应的变异等位基因频率之间的差,该密度分布指示相对于映射簧片编号的变异等位基因频率和参考变异等位基因频率的密度靶基因。系数计算单元140使用每个目标基因的特征距离来计算校正系数。拷贝数计算单元150使用肿瘤样本中每个靶基因的拷贝数和校正系数来计算癌细胞中每个靶基因的拷贝数。

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