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An apparatus for detecting structural variation of chromosome and a method of manufacturing the same

机译:用于检测染色体的结构变异的装置及其制造方法

摘要

The present invention is obtained by obtaining a sample of the target; A first calculating unit analyzing genetic information of a sample; A second operation unit for collating a result of the first operation unit with a sequence of a target reference chromosome; A detector for detecting a chromosomal structural variation from the collation result of the second calculator; And The present invention relates to a chromosome structural variation detection device and a method for manufacturing the same, including an output unit defining and outputting a chromosomal structural variation obtained from the detection unit as a node and an edge around a breaking point. Through the apparatus of the present invention, by more accurately defining the variation of the genetic information of the desired sample to construct the data, the information on the variation can be categorized and a large amount of data can be easily constructed.
机译:通过获得靶标样品获得本发明。第一计算单元分析样品的遗传信息;第二运算单元,用于将第一运算单元的结果与目标参考染色体的序列进行核对;用于根据第二计算器的核对结果检测染色体结构变化的检测器;染色体结构变异检测装置及其制造方法技术领域本发明涉及一种染色体结构变异检测装置及其制造方法,包括:输出单元,其将从所述检测单元获得的染色体结构变异定义并输出为节点和断点附近的边缘。通过本发明的设备,通过更准确地定义期望样本的遗传信息的变异以构建数据,可以对与变异有关的信息进行分类,并且可以容易地构建大量数据。

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