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    • 3. 发明申请
    • SYSTEMS AND METHODS FOR CHARACTERIZING NUCLEIC ACID IN A BIOLOGICAL SAMPLE
    • 用于表征生物样品中核酸的系统和方法
    • WO2018081465A1
    • 2018-05-03
    • PCT/US2017/058599
    • 2017-10-26
    • PATHWAY GENOMICS CORPORATION
    • DHARAJIYA, Nilesh GaneshbhaiRAJPUT, Akhil
    • C12Q1/6869C12Q1/6874C12Q1/6883
    • C12Q1/6886C12Q1/6869C12Q1/6874C12Q1/6883C12Q2600/154C12Q2600/156
    • 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.
    • 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。
    • 8. 发明申请
    • GENETIC BASED HEALTH MANAGEMENT APPARATUS AND METHODS
    • 基于遗传的卫生管理手段和方法
    • WO2013141833A3
    • 2014-04-24
    • PCT/US2012029577
    • 2012-03-18
    • PATHWAY GENOMICSNOVA MICHAELDEL TREDICI ANDRIACHAWLA ADITIMAGNUSON VICTORIA
    • NOVA MICHAELDEL TREDICI ANDRIACHAWLA ADITIMAGNUSON VICTORIA
    • C12Q1/68G06Q10/00
    • G06F19/18G06Q50/24
    • Apparatus and methods receive genetic material from a human test subject and characterize that genetic material into an electronic representation of a genome. Genetic features relate to diet, nutrition and exercise with a view to weight control. Based upon the presence of certain genetic features, genetic markers or polymorphisms, a rules based logic path is executed to arrive at an action plan set of recommendations. These recommendations relate to lifestyle actions which may be taken up by a person and these actions thus relate to that person's particular genetic composition. These apparatus and methods produce an easy-ta-consume visual presentation describing genetic based traits and conditions, the personal status of a test subject as it relates to these genetic dependent traits and conditions, and possible lifestyle actions which may be performed by the user.
    • 装置和方法从人类受试者接收遗传物质,并将遗传物质表征为基因组的电子表示。 遗传特征与饮食,营养和运动有关,以控制体重。 基于某些遗传特征,遗传标记或多态性的存在,执行基于规则的逻辑路径以得到一组建议的动作计划。 这些建议涉及到一个人可能会采取的生活方式行为,因此这些行为与该人的特定遗传成分有关。 这些装置和方法产生简单的消费视觉呈现,描述基于遗传的特征和条件,与这些遗传依赖性状和条件相关的测试对象的个人状态,以及用户可能执行的可能的生活方式动作。
    • 9. 发明申请
    • GENETIC BASED HEALTH MANAGEMENT APPARATUS AND METHODS
    • 基于遗传的卫生管理手段和方法
    • WO2013141833A2
    • 2013-09-26
    • PCT/US2012/029577
    • 2012-03-18
    • PATHWAY GENOMICSNOVA, MichaelDEL TREDICI, AndriaCHAWLA, AditiMAGNUSON, Victoria
    • NOVA, MichaelDEL TREDICI, AndriaCHAWLA, AditiMAGNUSON, Victoria
    • C12Q1/68G06Q50/24
    • G06F19/18G06Q50/24
    • Apparatus and methods are devised and provided to receive genetic material from a human test subject and further to characterize that genetic material into an electronic representation of a genome. In particular, with respect to many genetic features which relate to diet, nutrition and exercise with a view to weight control. Based upon the presence of certain genetic features, genetic markers or polymorphisms, a rules based logic path is executed to arrive at a action plan set of recommendations. These recommendations relate to lifestyle actions which may be taken up by a person and these actions thus relate to that person's particular genetic composition. These apparatus and methods produce an easy-to-consume visual presentation describing genetic based traits and conditions, the personal status of a test subject as it relates to these genetic dependent traits and conditions, and possible lifestyle actions which may be performed by the user.
    • 设计和提供装置和方法以从人类测试对象接收遗传物质,并进一步将遗传物质表征为基因组的电子表示。 特别地,关于与饮食,营养和运动相关的许多遗传特征,以便控制体重。 基于某些遗传特征,遗传标记或多态性的存在,执行基于规则的逻辑路径以得到一组建议的行动计划。 这些建议涉及到一个人可能会采取的生活方式行为,因此这些行为与该人的特定遗传成分有关。 这些装置和方法产生描述基于遗传的特征和条件的容易消费的视觉呈现,与这些遗传依赖性状和条件相关的测试对象的个人状态以及用户可能执行的可能的生活方式动作。