Methods for Non-Invasive Prenatal Ploidy Calling
    2.
    发明申请
    Methods for Non-Invasive Prenatal Ploidy Calling 审中-公开
    非侵入性产前倍性调用方法

    公开(公告)号:US20120185176A1

    公开(公告)日:2012-07-19

    申请号:US13499086

    申请日:2010-09-30

    Abstract: Disclosed herein are methods for determining the copy number of a chromosome in a fetus in the context of non-invasive prenatal diagnosis. In an embodiment, the measured genetic data from a sample of genetic material that contains both fetal DNA and maternal DNA is analyzed, along with the genetic data from the biological parents of the fetus, and the copy number of the chromosome of interest is determined. In an embodiment, the maternal serum is measured using a single-nucleotide polymorphism (SNP) microarray, along with parental genomic data, and the determination of the chromosome copy number is used to make clinical decisions pertaining to the fetus.

    Abstract translation: 本文公开了用于在非侵入性产前诊断的上下文中确定胎儿中染色体的拷贝数的方法。 在一个实施方案中,分析来自含有胎儿DNA和母体DNA的遗传物质的样品的测量的遗传数据以及来自胎儿的生物亲本的遗传数据,并确定感兴趣的染色体的拷贝数。 在一个实施方案中,使用单核苷酸多态性(SNP)微阵列以及亲本基因组数据测量母体血清,并且使用染色体拷贝数的确定来进行与胎儿有关的临床决定。

    System and method for improving clinical decisions by aggregating, validating and analysing genetic and phenotypic data
    3.
    发明授权
    System and method for improving clinical decisions by aggregating, validating and analysing genetic and phenotypic data 有权
    通过聚合,验证和分析遗传和表型数据来改进临床决策的系统和方法

    公开(公告)号:US08024128B2

    公开(公告)日:2011-09-20

    申请号:US11004274

    申请日:2004-12-03

    CPC classification number: G06F19/24 G06F19/18

    Abstract: The information management system disclosed enables caregivers to make better decisions by using aggregated data. The system enables the integration, validation and analysis of genetic, phenotypic and clinical data from multiple subjects. A standardized data model stores a range of patient data in standardized data classes comprising patient profile, genetic, symptomatic, treatment and diagnostic information. Data is converted into standardized data classes using a data parser specifically tailored to the source system. Relationships exist between standardized data classes, based on expert rules and statistical models, and are used to validate new data and predict phenotypic outcomes. The prediction may comprise a clinical outcome in response to a proposed intervention. The statistical models and methods for training those models may be input according to a standardized template. Methods are described for selecting, creating and training the statistical models to operate on genetic, phenotypic, clinical and undetermined data sets.

    Abstract translation: 公开的信息管理系统使护理人员能够通过使用聚合数据做出更好的决策。 该系统能够整合,验证和分析来自多个受试者的遗传,表型和临床数据。 标准化数据模型将患者数据范围存储在包括患者概况,遗传,症状,治疗和诊断信息的标准化数据类别中。 使用专门针对源系统定制的数据解析器将数据转换为标准化数据类。 基于专家规则和统计模型,标准化数据类之间存在关系,用于验证新数据并预测表型结果。 预测可以包括响应于所提出的干预的临床结果。 可以根据标准化模板输入训练这些模型的统计模型和方法。 描述了用于选择,创建和训练统计模型以操作遗传,表型,临床和未确定数据集的方法。

    Methods for Embryo Characterization and Comparison
    4.
    发明申请
    Methods for Embryo Characterization and Comparison 审中-公开
    胚胎表征与比较方法

    公开(公告)号:US20110092763A1

    公开(公告)日:2011-04-21

    申请号:US12994260

    申请日:2009-05-27

    CPC classification number: C12Q1/6883 C12Q2600/156

    Abstract: Disclosed herein are methods for determining which embryos from a group of embryos are most likely to implant and develop as desired. In an embodiment of the present disclosure, one or more cells are biopsied from each of the embryos, and the genetic condition of those cells are determined. Within a group of embryos that each test positive for aneuploidy, the likelihood that each embryo contains euploid cells may be determined from the type of aneuploidy observed in the biopsied cells. This knowledge may be used to make a decision as to which embryos to transfer to a uterus. In an embodiment of the present disclosure, these determinations are made for the purpose of embryo selection in the context of in vitro fertilization.

    Abstract translation: 本文公开了用于根据需要确定来自一组胚胎最可能植入和发育的胚胎的方法。 在本公开的一个实施方案中,从每个胚胎活检一个或多个细胞,并确定那些细胞的遗传条件。 在一组胚胎中,每个胚胎均检测到非整倍体阳性,每个胚胎含有整倍体细胞的可能性可以从活检细胞中观察到的非整倍体类型确定。 这些知识可能用于决定哪些胚胎转移到子宫。 在本公开的一个实施方案中,这些确定是为了在体外受精的背景下进行胚胎选择的目的。

    Method and system for training dynamic nonlinear adaptive filters which have embedded memory
    6.
    发明授权
    Method and system for training dynamic nonlinear adaptive filters which have embedded memory 失效
    用于训练具有嵌入式存储器的动态非线性自适应滤波器的方法和系统

    公开(公告)号:US06351740B1

    公开(公告)日:2002-02-26

    申请号:US09201927

    申请日:1998-12-01

    CPC classification number: G06N99/005 H03H21/0016 H03H2222/04

    Abstract: Described herein is a method and system for training nonlinear adaptive filters (or neural networks) which have embedded memory. Such memory can arise in a multi-layer finite impulse response (FIR) architecture, or an infinite impulse response (IIR) architecture. We focus on filter architectures with separate linear dynamic components and static nonlinear components. Such filters can be structured so as to restrict their degrees of computational freedom based on a priori knowledge about the dynamic operation to be emulated. The method is detailed for an FIR architecture which consists of linear FIR filters together with nonlinear generalized single layer subnets. For the IIR case, we extend the methodology to a general nonlinear architecture which uses feedback. For these dynamic architectures, we describe how one can apply optimization techniques which make updates closer to the Newton direction than those of a steepest descent method, such as backpropagation. We detail a novel adaptive modified Gauss-Newton optimization technique, which uses an adaptive learning rate to determine both the magnitude and direction of update steps. For a wide range of adaptive filtering applications, the new training algorithm converges faster and to a smaller value of cost than both steepest-descent methods such as backpropagation-through-time, and standard quasi-Newton methods. We apply the algorithm to modeling the inverse of a nonlinear dynamic tracking system 5, as well as a nonlinear amplifier 6.

    Abstract translation: 这里描述了一种用于训练具有嵌入式存储器的非线性自适应滤波器(或神经网络)的方法和系统。 这种存储器可以出现在多层有限脉冲响应(FIR)架构或无限脉冲响应(IIR)架构中。 我们专注于具有单独的线性动态组件和静态非线性组件的滤波器架构。 这样的滤波器可以被构造成基于关于待仿真的动态操作的先验知识来限制它们的计算自由度。 该方法对于由线性FIR滤波器和非线性广义单层子网组成的FIR架构是详细的。 对于IIR案例,我们将方法扩展到使用反馈的一般非线性架构。 对于这些动态架构,我们描述了如何应用优化技术,使更新更接近牛顿方向,而不是最速下降方法,如反向传播。 我们详细介绍了一种新颖的自适应修正高斯牛顿优化技术,它利用自适应学习速率来确定更新步长的幅度和方向。 对于广泛的自适应滤波应用,新的训练算法比最快下降方法(如反向传播通过时间和标准准牛顿法)收敛速度更快,成本更低。 我们应用算法建模非线性动态跟踪系统5的逆,以及非线性放大器6。

    SYSTEM AND METHOD FOR CLEANING NOISY GENETIC DATA FROM TARGET INDIVIDUALS USING GENETIC DATA FROM GENETICALLY RELATED INDIVIDUALS
    7.
    发明申请
    SYSTEM AND METHOD FOR CLEANING NOISY GENETIC DATA FROM TARGET INDIVIDUALS USING GENETIC DATA FROM GENETICALLY RELATED INDIVIDUALS 审中-公开
    使用遗传资料从遗传相关个体清除目标个体的噪声遗传数据的系统和方法

    公开(公告)号:US20140193816A1

    公开(公告)日:2014-07-10

    申请号:US14156433

    申请日:2014-01-15

    Abstract: A system and method for determining the genetic data for one or a small set of cells, or from fragmentary DNA, where a limited quantity of genetic data is available, are disclosed. Genetic data for the target individual is acquired and amplified using known methods, and poorly measured base pairs, missing alleles and missing regions are reconstructed using expected similarities between the target genome and the genome of genetically related subjects. In accordance with one embodiment of the invention incomplete genetic data is acquired from embryonic cells, fetal cells, or cell-free fetal DNA isolated from the mother's blood, and the incomplete genetic data is reconstructed using the more complete genetic data from a larger sample diploid cells from one or both parents, with or without genetic data from haploid cells from one or both parents, and/or genetic data taken from other related individuals.

    Abstract translation: 公开了一种用于确定一个或一小组细胞遗传数据的系统和方法,或从有限数量的遗传数据获得的片段DNA。 使用已知方法获取和扩增目标个体的遗传数据,并且使用目标基因组与基因相关受试者的基因组之间的预期相似性重建差测量的碱基对,缺失的等位基因和缺失区域。 根据本发明的一个实施方案,从母体血液中分离的胚胎细胞,胎儿细胞或无细胞胎儿DNA获得不完全遗传数据,并使用更大的样本二倍体的更完整的遗传数据重建不完全遗传数据 来自一个或两个亲本的细胞,具有或不具有来自一个或两个亲本的单倍体细胞的遗传数据,和/或从其他相关个体获取的遗传数据。

    System and method for cleaning noisy genetic data and determining chromosome copy number
    8.
    发明授权
    System and method for cleaning noisy genetic data and determining chromosome copy number 有权
    清除嘈杂遗传数据和确定染色体拷贝数的系统和方法

    公开(公告)号:US08515679B2

    公开(公告)日:2013-08-20

    申请号:US12076348

    申请日:2008-03-17

    Abstract: Disclosed herein is a system and method for increasing the fidelity of measured genetic data, for making allele calls, and for determining the state of aneuploidy, in one or a small set of cells, or from fragmentary DNA, where a limited quantity of genetic data is available. Genetic material from the target individual is acquired, amplified and the genetic data is measured using known methods. Poorly or incorrectly measured base pairs, missing alleles and missing regions are reconstructed using expected similarities between the target genome and the genome of genetically related individuals. In accordance with one embodiment of the invention, incomplete genetic data from an embryonic cell are reconstructed at a plurality of loci using the more complete genetic data from a larger sample of diploid cells from one or both parents, with or without haploid genetic data from one or both parents. In another embodiment of the invention, the chromosome copy number can be determined from the measured genetic data of a single or small number of cells, with or without genetic information from one or both parents. In another embodiment of the invention, these determinations are made for the purpose of embryo selection in the context of in-vitro fertilization. In another embodiment of the invention, the genetic data can be reconstructed for the purposes of making phenotypic predictions.

    Abstract translation: 本文公开了一种系统和方法,用于增加测量的遗传数据的保真度,进行等位基因调用,并确定在一组或一组细胞中或从片段DNA中确定非整倍体的状态,其中有限数量的遗传数据 是可用的 获取,扩增来自目标个体的遗传物质,并使用已知方法测量遗传数据。 使用目标基因组与遗传相关个体的基因组之间的预期相似性来重建差或不正确测量的碱基对,缺失的等位基因和缺失区域。 根据本发明的一个实施方案,使用来自一个或两个亲本的二倍体细胞的较大样本的更完整的遗传数据,在多个基因座重建来自胚胎细胞的不完全遗传数据,具有或不具有来自一个的单倍体遗传数据 或双亲。 在本发明的另一个实施方案中,染色体拷贝数可以从单个或少数细胞的测量的遗传数据确定,具有或不具有来自一个或两个亲本的遗传信息。 在本发明的另一个实施方案中,这些确定是为了在体外受精的背景下进行胚胎选择的目的。 在本发明的另一个实施方案中,为了进行表型预测的目的,可以重建遗传数据。

    Position determination using wireless local area network signals and television signals
    9.
    发明授权
    Position determination using wireless local area network signals and television signals 有权
    使用无线局域网信号和电视信号进行位置确定

    公开(公告)号:US08149168B1

    公开(公告)日:2012-04-03

    申请号:US11622838

    申请日:2007-01-12

    CPC classification number: G01S5/0242 G01S5/0263

    Abstract: Apparatus having corresponding methods and computer-readable media comprise a first receiver to receive a wireless television signal; a first measurement unit to generate a measurement of the wireless television signal; wherein a position of the apparatus is determined based on the measurement of the wireless television signal; a second receiver to receive a wireless local area network (WLAN) signal; and a second measurement unit to generate a measurement of the WLAN signal; wherein a position of a transmitter of the WLAN signal is determined based on the position of the apparatus and the measurement of the WLAN signal.

    Abstract translation: 具有相应方法和计算机可读介质的设备包括:接收无线电视信号的第一接收机; 第一测量单元,用于产生无线电视信号的测量; 其中,所述装置的位置基于所述无线电视信号的测量来确定; 接收无线局域网(WLAN)信号的第二接收机; 以及第二测量单元,用于生成WLAN信号的测量; 其中,基于所述装置的位置和所述WLAN信号的测量来确定所述WLAN信号的发送器的位置。

    Methods for Allele Calling and Ploidy Calling
    10.
    发明申请
    Methods for Allele Calling and Ploidy Calling 审中-公开
    等位基因调用和倍性调用方法

    公开(公告)号:US20110178719A1

    公开(公告)日:2011-07-21

    申请号:US13057350

    申请日:2009-08-04

    CPC classification number: G16B20/00 C12Q1/6883 C12Q2600/156 G16B40/00

    Abstract: Disclosed herein is a system and method for making allele calls, and for determining the ploidy state, in one or a small set of cells, or where a limited quantity of genetic data is available. Poorly or incorrectly measured base pairs, missing alleles and missing regions are reconstructed and the haplotypes are determined using expected similarities between the target genome and the knowledge of the genomes of genetically related individuals. In one embodiment, incomplete genetic data from an embryonic cell are reconstructed at a plurality of loci using the genetic data from both parents, and possibly one or more sperm and/or sibling embryos. In another embodiment, the chromosome copy number can be determined using the same input data. In another embodiment, these determinations are made for embryo selection during IVF, for non-invasive prenatal diagnosis, or for making phenotypic predictions.

    Abstract translation: 本文公开了一种用于在一个或一小组细胞中或其中有限数量的遗传数据可用的等位基因调用和用于确定倍性状态的系统和方法。 重建不良或不正确的碱基对,缺失的等位基因和缺失区域,并使用目标基因组与遗传相关个体基因组知识之间的预期相似性来确定单倍型。 在一个实施方案中,使用来自双亲和可能的一个或多个精子和/或同胞胚胎的遗传数据在多个基因座重建来自胚胎细胞的不完全遗传数据。 在另一个实施方案中,可以使用相同的输入数据来确定染色体拷贝数。 在另一个实施方案中,进行这些测定用于IVF期间的胚胎选择,用于非侵入性产前诊断或用于进行表型预测。

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