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GENOMIC-ANALYSIS APPARATUS, GENOMIC-ANALYSIS METHOD, AND GENOMIC-ANALYSIS PROGRAM

机译:基因组分析装置,基因组分析方法和基因组分析程序

摘要

PROBLEM TO BE SOLVED: To provide a technique which enables identification of the responsible mutation related to a particular hereditary phenotype with high accuracy.SOLUTION: A genomic-analysis apparatus related to the one aspect of the invention comprises: a candidate mutation evaluating part which calculates evaluation values for evaluating specificity of each candidate mutation by obtaining each genome base sequence of a target organism with a particular hereditary phenotype and a plurality of control organisms without the hereditary phenotype, calculating the different degree of the mutation part between the target organism and each control organism, and the different degrees of the mutation parts among a plurality of control organisms, for every partial genome base sequence comprising the candidate mutation which serves as a candidate of the responsible mutation of the hereditary phenotype, and examining whether the difference between both calculated different degrees is significant; and an output control part which outputs the result of the examination in the condition that the order of each candidate mutation can be identified based on the evaluation values.SELECTED DRAWING: Figure 4
机译:解决的问题:提供一种能够高精度地识别与特定的遗传表型有关的负责任突变的技术。解决方案:与本发明的一个方面有关的基因组分析设备包括:候选突变评估部分,其计算通过获得具有特定遗传表型的靶生物和多个没有遗传表型的对照生物的每个基因组碱基序列,计算靶生物与每个对照之间突变部分的不同程度,来评估每个候选突变的特异性的评估值生物体,以及多个对照生物体中突变部分的不同程度,针对每个包含候选突变的部分基因组碱基序列,该候选突变用作遗传表型的负责任突变的候选者,并检查两者之间的差异是否计算出差异度很重要蚂蚁;以及输出控制部分,该输出控制部分在可以基于评估值确定每个候选突变的顺序的条件下输出检查结果。选定的图:图4

著录项

  • 公开/公告号JP2016077227A

    专利类型

  • 公开/公告日2016-05-16

    原文格式PDF

  • 申请/专利权人 OSAKA UNIV;

    申请/专利号JP20140212799

  • 申请日2014-10-17

  • 分类号C12M1;C12M1/34;C12N15/09;C12Q1/68;G06F19/18;

  • 国家 JP

  • 入库时间 2022-08-21 14:47:45

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