Methods and systems for characterizing a cellular constituent using response profiles
    51.
    发明授权
    Methods and systems for characterizing a cellular constituent using response profiles 有权
    使用响应曲线表征细胞成分的方法和系统

    公开(公告)号:US08412460B2

    公开(公告)日:2013-04-02

    申请号:US12686311

    申请日:2010-01-12

    摘要: The invention relates to methods and systems (e.g., computer systems and computer program products) for characterizing cellular constituents, particularly genes and gene products. In particular, the invention provides methods for assigning or determining the biological function of uncharacterized genes and gene products by using “response profiles,” i.e., measurements of pluralities of cellular constituents in cells having a modified gene or gene product, as phenotypic markers for the gene or gene product. Methods are provided for clustering such response profiles so that similar or correlated response profiles are organized into the same cluster. The invention also provides databases or “compendiums” of response profiles to which the response profile of an uncharacterized gene or gene product can compared.

    摘要翻译: 本发明涉及用于表征细胞组分,特别是基因和基因产物的方法和系统(例如,计算机系统和计算机程序产品)。 特别地,本发明提供了通过使用响应曲线来分配或确定未表征的基因和基因产物的生物学功能的方法,即,具有修饰基因或基因产物的细胞中多种细胞成分的测量,作为该基因的表型标记,或 基因产物。 提供了用于聚类这种响应简档的方法,使得相似或相关的响应简档被组织到相同的集群中。 本发明还提供响应曲线的数据库或汇编,其中非特征基因或基因产物的响应特征可以与之对比。

    DIAGNOSIS OF FETAL ANEUPLOIDY BY QUANTIFICATION OF GENOMIC DNA FROM MIXED SAMPLES
    55.
    发明申请
    DIAGNOSIS OF FETAL ANEUPLOIDY BY QUANTIFICATION OF GENOMIC DNA FROM MIXED SAMPLES 审中-公开
    通过从混合样品中定量鉴定基因组DNA来诊断子宫内膜异位症

    公开(公告)号:US20100291571A1

    公开(公告)日:2010-11-18

    申请号:US12751908

    申请日:2010-03-31

    IPC分类号: C12Q1/68

    摘要: The present invention provides systems, apparatuses, and methods to detect the presence of fetal cells when mixed with a population of maternal cells in a sample and to test fetal abnormalities, i.e. aneuploidy. In addition, the present invention provides methods to determine when there are insufficient fetal cells for a determination and report a non-informative case. The present invention involves quantifying regions of genomic DNA from a mixed sample. More particularly the invention involves quantifying DNA polymorphisms from the mixed sample.

    摘要翻译: 本发明提供了当与样品中的母体细胞群混合时检测胎儿细胞的存在并测试胎儿异常(即非整倍体)的系统,装置和方法。 此外,本发明提供了确定何时胎儿细胞不足以确定并报告非信息性病例的方法。 本发明涉及量化来自混合样品的基因组DNA的区域。 更具体地,本发明涉及从混合样品中定量DNA多态性。

    Methods and systems for determining the biological function of cell constituents using response profiles
    56.
    发明授权
    Methods and systems for determining the biological function of cell constituents using response profiles 有权
    使用反应曲线确定细胞成分的生物学功能的方法和系统

    公开(公告)号:US07657379B2

    公开(公告)日:2010-02-02

    申请号:US10332305

    申请日:2001-07-02

    摘要: The invention relates to methods and systems (e.g., computer systems and computer program products) for determining the biological function of uncharacterized cellular constituents, particularly genes and gene products, by using “response profiles,” i.e., measurements of pluralities of cellular constituents in cells having a modified gene or gene product, as phenotypic markers for the gene or gene product. Methods are provided for clustering such response profiles so that similar or correlated response profiles are organized into the same cluster. The invention also provides databases or “compendiums” of response profiles to which the response profile of an uncharacterized gene or gene product can be compared. In one embodiment, steps of the methods comprise comparing the measured response profiles to response profiles stored in the databases or compendiums, and determining the biological function of the response profiles in the databases that are most similar to the measured response profiles.

    摘要翻译: 本发明涉及通过使用“响应曲线”来确定未表征的细胞成分,特别是基因和基因产物的生物学功能的方法和系统(例如,计算机系统和计算机程序产品),即细胞中多种细胞成分的测量 具有修饰的基因或基因产物,作为基因或基因产物的表型标记。 提供了用于聚类这种响应简档的方法,使得相似或相关的响应简档被组织到相同的集群中。 本发明还提供可以比较非特异性基因或基因产物的反应谱的响应谱的数据库或“汇编”。 在一个实施例中,方法的步骤包括将测量的响应简档与存储在数据库或汇编中的响应简档进行比较,以及确定与测量的响应简档最相似的数据库中的响应简档的生物学功能。

    DIAGNOSIS OF FETAL ABNORMALITIES USING POLYMORPHISMS INCLUDING SHORT TANDEM REPEATS
    57.
    发明申请
    DIAGNOSIS OF FETAL ABNORMALITIES USING POLYMORPHISMS INCLUDING SHORT TANDEM REPEATS 审中-公开
    使用多态性诊断不良反应,包括短暂的重复

    公开(公告)号:US20080050739A1

    公开(公告)日:2008-02-28

    申请号:US11763426

    申请日:2007-06-14

    IPC分类号: C12Q1/68 G06G7/48

    摘要: The present invention provides systems, apparatuses, and methods to detect the presence of fetal cells when mixed with a population of maternal cells in a sample and to test fetal abnormalities, i.e. aneuploidy. In addition, the present invention provides methods to determine when there are insufficient fetal cells for a determination and report a non-informative case. The present invention involves quantifying regions of genomic DNA from a mixed sample. More particularly the invention involves quantifying DNA polymorphisms from the mixed sample.

    摘要翻译: 本发明提供了当与样品中的母体细胞群混合时检测胎儿细胞的存在并测试胎儿异常(即非整倍体)的系统,装置和方法。 此外,本发明提供了确定何时胎儿细胞不足以确定并报告非信息性病例的方法。 本发明涉及量化来自混合样品的基因组DNA的区域。 更具体地,本发明涉及从混合样品中定量DNA多态性。

    Methods and compositions for utilizing changes of hybridization signals during approach to equilibrium
    58.
    发明申请
    Methods and compositions for utilizing changes of hybridization signals during approach to equilibrium 审中-公开
    在平衡过程中利用杂交信号变化的方法和组合物

    公开(公告)号:US20050033520A1

    公开(公告)日:2005-02-10

    申请号:US10475960

    申请日:2002-04-24

    IPC分类号: C12Q1/68 G06F19/20 G06F19/00

    摘要: The present invention provides methods for utilizing the changes of hybridization levels in time during approach to equilibrium duplex formation for identifying specific hybridization to polynucleotide probes. In the invention, the changes of hybridization levels at one or more polynucleotide probes by a sample comprising a plurality of nucleic acid molecules having different sequences are monitored during their progress towards equilibrium and the continuing increase of hybridization signals beyond cross-hybridization is used as an indication of specific binding. The invention also provides methods of comparing specificities of different polynucleotides probes. The invention further provides methods for ranking and selecting polynucleotide probes that are specific to particular nucleic acids and methods for enhancing the detection of nucleic acids. The invention further provides methods for determining the orientation of nucleotide sequences.

    摘要翻译: 本发明提供了在平衡双相形成过程中利用杂交水平随时间变化的方法,用于鉴定与多核苷酸探针的特异性杂交。 在本发明中,在包含具有不同序列的多个核酸分子的样品的一个或多个多核苷酸探针处的杂交水平的变化在其进展到平衡期间被监测,并且超越交叉杂交的杂交信号的持续增加用作 指示具体绑定。 本发明还提供了比较不同多核苷酸探针的特异性的方法。 本发明还提供了用于评估和选择对特定核酸特异性的多核苷酸探针的方法和用于增强核酸检测的方法。 本发明还提供了确定核苷酸序列取向的方法。