首页> 外国专利> HIGH SENSITIVE GENETIC VARIATION DETECTION AND REPORTING SYSTEM BASED ON BARCODE SEQUENCE INFORMATION

HIGH SENSITIVE GENETIC VARIATION DETECTION AND REPORTING SYSTEM BASED ON BARCODE SEQUENCE INFORMATION

机译:基于条形码序列信息的高灵敏度遗传变异检测与报告系统

摘要

The present invention relates to a highly sensitive genetic variation detection system based on barcode sequence information. The present invention relates to a digital sequencing analyzer for detecting/analyzing genetic variation by performing digital sequencing on patient DNA obtained by a liquid biopsy method, and information on the genetic variation detected by the digital sequencing analyzer. It includes a service server that generates and provides a clinical support report related to the genetic mutation by referring to a public database. According to the present invention, a liquid biopsy NGS data obtained by digital sequencing can be analyzed to detect genetic variation, and a report can be provided in a form that can be referred to by a medical professional for clinical decision making.
机译:本发明涉及基于条形码序列信息的高灵敏度遗传变异检测系统。数字测序分析仪技术领域本发明涉及一种数字测序分析仪,其通过对通过液体活检法获得的患者DNA进行数字测序来检测/分析遗传变异,以及关于由数字测序分析仪检测到的遗传变异的信息。它包括一个服务服务器,该服务服务器通过参考公共数据库来生成并提供与基因突变有关的临床支持报告。根据本发明,可以分析通过数字测序获得的液体活检NGS数据以检测遗传变异,并且可以以医疗专业人员可以参考的形式提供报告以用于临床决策。

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