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1. 发明申请

WO2018081465A1 SYSTEMS AND METHODS FOR CHARACTERIZING NUCLEIC ACID IN A BIOLOGICAL SAMPLE 审中-公开
标题翻译：用于表征生物样品中核酸的系统和方法
公开(公告)号：WO2018081465A1
公开(公告)日：2018-05-03
申请号：PCT/US2017/058599
申请日：2017-10-26
申请人： PATHWAY GENOMICS CORPORATION
发明人： DHARAJIYA, Nilesh Ganeshbhai , RAJPUT, Akhil
IPC分类号： C12Q1/6869 , C12Q1/6874 , C12Q1/6883
CPC分类号： C12Q1/6886 , C12Q1/6869 , C12Q1/6874 , C12Q1/6883 , C12Q2600/154 , C12Q2600/156
摘要： A cancer detection method includes preparing a library of nucleic acids in a biological sample, sequencing the library, preferably with less than 1X coverage, measuring a copy number for genes in the sequenced library, and comparing the measured copy numbers with standard copy numbers for the genes to determine variability or similarity between the measured copy numbers and the standard copy numbers. Some embodiments include classifying the biological sample as cancer, determining a tissue of origin and/or a stage of cancer, and/or providing a patient with a diagnosis of cancer based on the variability or similarity between the measured copy numbers and the standard copy numbers. A computer system includes hardware components and computer-executable instructions that are executable to cause the computer system to perform steps in a cancer detection method.
摘要翻译：癌症检测方法包括制备生物样品中的核酸文库，对文库进行测序，优选用小于1X的覆盖率，测量测序文库中基因的拷贝数，并将测量的拷贝编号与基因的标准拷贝数以确定测量拷贝数与标准拷贝数之间的变异性或相似性。一些实施方案包括基于所测量的拷贝数与标准拷贝数之间的变异性或相似性将生物学样品分类为癌症，确定起源组织和/或癌症阶段，和/或向患者提供癌症诊断。计算机系统包括可执行的硬件组件和计算机可执行指令，以使计算机系统执行癌症检测方法中的步骤。

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