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COPY NUMBER MEASUREMENT DEVICE, COMPUTER READABLE MEDIUM, COPY NUMBER MEASUREMENT METHOD AND GENE PANEL

机译:拷贝数测量装置,计算机可读介质,拷贝数测量方法和基因面板

摘要

A position identification unit (110) maps a plurality of tumor sample reads to a human genome sequence, and identifies, for each target gene, a target position which is a genome position of a base, the genome position having changed with respect to the human genome 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, for each target gene, a feature distance equivalent to a difference between a variant allele frequency corresponding to a peak density and a reference variant allele frequency in a density distribution indicating a density of the number of mapping reads with respect to the variant allele frequency. A coefficient calculation unit (140) calculates a correction coefficient using the feature distance of each target gene. A copy-number calculation unit (150) calculates the copy number of each target gene in the cancer cell using the copy number per target gene in a tumor sample and a correction coefficient.
机译:位置识别单元( 110 )将读取的多个肿瘤样品映射到人类基因组序列,并针对每个目标基因识别作为碱基的基因组位置的目标位置,基因组位置在人类基因组序列方面发生了变化。频率计算单元( 120 )为每个目标基因的每个目标位置计算变异等位基因频率。距离计算单元( 130 )为每个目标基因计算一个特征距离,该特征距离等于与峰值密度相对应的变异等位基因频率与指示a的密度分布中的参考变异等位基因频率之间的差。相对于变异等位基因频率的定位读段数目的密度。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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