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    METHODS AND COMPOSITIONS FOR DETERMINING WHETHER A SUBJECT CARRIES A DISEASE ASSOCIATED GENE MUTATION COMMON IN JEWISH POPULATIONS
    2.
    发明申请
    METHODS AND COMPOSITIONS FOR DETERMINING WHETHER A SUBJECT CARRIES A DISEASE ASSOCIATED GENE MUTATION COMMON IN JEWISH POPULATIONS 审中-公开
    方法和组合物，用于确定一个主体是否在犹太人群体中相关疾病相关的基因突变共同

    公开(公告)号：US20100304985A1

    公开(公告)日：2010-12-02

    申请号：US11916439

    申请日：2007-10-25

    申请人： Iris Schrijver ,  Phyllis Gardner ,  Eugene Pergament ,  Morry Fiddler

    发明人： Iris Schrijver ,  Phyllis Gardner ,  Eugene Pergament ,  Morry Fiddler

    IPC分类号： C40B30/04 ,  C40B40/06

    CPC分类号： C12Q1/6883 ,  C12Q2600/156

    摘要： Methods are provided for determining whether a subject carries a disease associated gene mutation common in Jewish populations. In practicing the subject methods, an array comprising a plurality of associated gene mutation probes is contacted with a nucleic acid sample from the subject, and the presence of any resultant surface bound target nucleic acids is detected to determine whether the subject carries an disease associated gene mutation common in Jewish populations. In addition, reagents and kits thereof that find use in practicing the subject methods are provided.

    摘要翻译： 提供方法用于确定受试者是否携带犹太人口中常见的疾病相关基因突变。 在实施本发明方法时，将包含多个相关基因突变探针的阵列与来自受试者的核酸样品接触，并检测任何所得表面结合靶核酸的存在，以确定受试者是否携带疾病相关基因 在犹太人群中常见的突变。 此外，提供了用于实践本发明方法的试剂和试剂盒。

    TESTING PROCESS
    3.
    发明申请
    TESTING PROCESS 审中-公开
    测试过程

    公开(公告)号：US20120253685A1

    公开(公告)日：2012-10-04

    申请号：US13431174

    申请日：2012-03-27

    申请人： Eugene Pergament ,  Carol J. Wilson ,  Philip Wyatt ,  Howard S. Cuckle

    发明人： Eugene Pergament ,  Carol J. Wilson ,  Philip Wyatt ,  Howard S. Cuckle

    IPC分类号： G06F19/20 ,  G06F19/00

    CPC分类号： G01N33/689 ,  G16H50/20 ,  G16H50/30

    摘要： A method of determining an inclusive residual risk that a pregnancy is affected by at least one phenotypic disorder included in a disorder set is provided. The method includes calculating a prior risk for a disorder set, calculating posterior risks for the individual disorders or groups of disorders in the disorder set that can be screened for and/or diagnosed prenatally, and calculating an inclusive residual risk for the disorder set by combining the prior risks for disorders for which no tests have been performed and the individual posterior risks.

    摘要翻译： 提供了一种确定怀孕受包括在病症组中的至少一种表型障碍影响的包容性残留风险的方法。 该方法包括计算病情集合的先前风险，计算可以筛选和/或诊断出的疾病组中的个体病症或病症组的后验风险，以及通过组合计算所述病症的包容性残留风险 以前没有进行检查的疾病和个体后遗症的风险。

    Testing Process
    4.
    发明申请
    Testing Process 审中-公开
    测试过程

    公开(公告)号：US20090036748A1

    公开(公告)日：2009-02-05

    申请号：US11850314

    申请日：2007-09-05

    申请人： Eugene Pergament ,  Carol J. Wilson ,  Philip Wyatt ,  Howard S. Cuckle

    发明人： Eugene Pergament ,  Carol J. Wilson ,  Philip Wyatt ,  Howard S. Cuckle

    IPC分类号： A61B5/00 ,  G06F19/00 ,  C12Q1/68

    CPC分类号： G01N33/689 ,  G16H50/20 ,  G16H50/30

    摘要： A method of determining an inclusive residual risk that a pregnancy is affected by at least one phenotypic disorder included in a disorder set is provided. The method includes calculating a prior risk for a disorder set, calculating posterior risks for the individual disorders or groups of disorders in the disorder set that can be screened for and/or diagnosed prenatally, and calculating an inclusive residual risk for the disorder set by combining the prior risks for disorders for which no tests have been performed and the individual posterior risks.

    摘要翻译： 提供了确定怀孕受到包含在病症组中的至少一种表型障碍影响的包容性残留风险的方法。 该方法包括计算病情集合的先前风险，计算可以筛选和/或诊断出的疾病组中的个体病症或病症组的后验风险，以及通过组合计算所述病症的包容性残留风险 以前没有进行检查的疾病和个体后遗症的风险。