Methods for non-invasive prenatal ploidy calling
    2.
    发明授权
    Methods for non-invasive prenatal ploidy calling 有权
    Verfahren zur nichtinvasivenpränatalenPloidiezuordnung

    公开(公告)号:EP2902500B1

    公开(公告)日:2017-01-11

    申请号:EP14195468.5

    申请日:2011-11-18

    申请人: Natera, Inc.

    IPC分类号: C12Q1/68

    摘要: The present disclosure provides methods for determining the ploidy status of a chromosome in a gestating fetus from genotypic data measured from a mixed sample of DNA comprising DNA from both the mother of the fetus and from the fetus, and optionally from genotypic data from the mother and father. The ploidy state is determined by using a joint distribution model to create a plurality of expected allele distributions for different possible fetal ploidy states given the parental genotypic data, and comparing the expected allelic distributions to the pattern of measured allelic distributions measured in the mixed sample, and choosing the ploidy state whose expected allelic distribution pattern most closely matches the observed allelic distribution pattern. The mixed sample of DNA may be preferentially enriched at a plurality of polymorphic loci in a way that minimizes the allelic bias, for example using massively multiplexed targeted PCR.

    摘要翻译: 本公开提供了从包括来自胎儿的母体和来自胎儿的DNA的DNA的混合样品测量的基因型数据以及任选地来自母体的基因型数据以及任选地从胎儿的基因型数据中确定妊娠胎儿中染色体的倍性状态的方法 父亲。 通过使用联合分布模型来确定给定父母基因型数据的不同可能的胎儿倍性状态的多个预期等位基因分布,并将预期的等位基因分布与混合样品中测量的等位基因分布的模式进行比较来确定倍性状态, 并选择其预期等位基因分布模式与观察到的等位基因分布模式最为匹配的倍性状态。 DNA的混合样品可以以使等位基因偏倚最小化的方式优先富集在多个多态性位点,例如使用大规模复用的靶向PCR。

    SELF-COMPETITIVE PRIMER AND METHOD OF USE
    5.
    发明公开
    SELF-COMPETITIVE PRIMER AND METHOD OF USE 有权
    自身强大底漆及其使用方法

    公开(公告)号:EP2839023A1

    公开(公告)日:2015-02-25

    申请号:EP12880698.1

    申请日:2012-07-03

    IPC分类号: C12Q1/68

    摘要: Disclosed herein is a self-competitive primer for preferentially amplifying a sample nucleic acid based on whether a selected region thereof has a nucleotide variation, in comparison with a selected region of a reference nucleic acid. The self-competitive primer includes a 5'-competing domain and a 3'-elongating domain. Sequences of the 5'-competing domain and the 3'-elongating domain are complementary to a first region and a second region of the reference nucleic acid, respectively. The first region includes the selected region and at least one nucleotide residue immediately downstream of the selected region of the reference nucleic acid. The second region is located downstream of the selected region of the reference nucleic acid and does not comprise the selected region of the reference nucleic acid, and the first region and the second region overlap by at least one nucleotide. Also disclosed herein is a method for preferentially amplifying a variant sample nucleic acid over a non-variant sample nucleic acid.

    COMPOSITIONS AND METHODS FOR THE IDENTIFICATION OF INHIBITORS OF RETROVIRAL INFECTION
    9.
    发明公开
    COMPOSITIONS AND METHODS FOR THE IDENTIFICATION OF INHIBITORS OF RETROVIRAL INFECTION 有权
    组合物和用于鉴定复古抑制剂病毒感染

    公开(公告)号:EP2201118A4

    公开(公告)日:2010-10-20

    申请号:EP08830668

    申请日:2008-09-12

    申请人: TRANA DISCOVERY

    摘要: Methods of identifying inhibitors of retroviral propagation, tRNA used in the methods, and kits, including the tRNA, which can be used in the methods, are disclosed. Methods of treating or preventing retroviral infections by administering an effective amount of the inhibitors, and pharmaceutical compositions including the inhibitors, are also disclosed. The methods involve forming a mixture comprising a linear sequence of a tRNA anticodon stem loop fragment that is not capable of forming a stem-loop, a target nucleic acid molecule capable of binding to the tRNA anticodon stem loop fragment, and a test compound. The mixture is incubated under conditions that allow binding of the tRNA anticodon stem loop fragment and the target nucleic acid molecule in the absence of the test compound. Assays can then be performed that detect whether or not the test compound inhibits the binding of the tRNA anticodon stem loop fragment and the target nucleic acid molecule.

    COMPOSITIONS AND METHODS FOR THE IDENTIFICATION OF INHIBITORS OF RETROVIRAL INFECTION
    10.
    发明公开
    COMPOSITIONS AND METHODS FOR THE IDENTIFICATION OF INHIBITORS OF RETROVIRAL INFECTION 有权
    确定复方感染抑制剂的组合物和方法

    公开(公告)号:EP2201118A2

    公开(公告)日:2010-06-30

    申请号:EP08830668.3

    申请日:2008-09-12

    申请人: Trana Discovery

    IPC分类号: C12N15/34 C12Q1/68

    摘要: Methods of identifying inhibitors of retroviral propagation, tRNA used in the methods, and kits, including the tRNA, which can be used in the methods, are disclosed. Methods of treating or preventing retroviral infections by administering an effective amount of the inhibitors, and pharmaceutical compositions including the inhibitors, are also disclosed. The methods involve forming a mixture comprising a linear sequence of a tRNA anticodon stem loop fragment that is not capable of forming a stem-loop, a target nucleic acid molecule capable of binding to the tRNA anticodon stem loop fragment, and a test compound. The mixture is incubated under conditions that allow binding of the tRNA anticodon stem loop fragment and the target nucleic acid molecule in the absence of the test compound. Assays can then be performed that detect whether or not the test compound inhibits the binding of the tRNA anticodon stem loop fragment and the target nucleic acid molecule.

    摘要翻译: 公开了鉴定逆转录病毒繁殖抑制剂,方法中使用的tRNA和可用于该方法的试剂盒(包括tRNA)的方法。 还公开了通过施用有效量的抑制剂治疗或预防逆转录病毒感染的方法,以及包含该抑制剂的药物组合物。 该方法包括形成包含不能形成茎环的tRNA反密码子茎环片段,能够结合tRNA反密码子茎环片段的靶核酸分子和测试化合物的线性序列的混合物。 在允许tRNA反密码子茎环片段和靶核酸分子在不存在测试化合物的情况下结合的条件下孵育混合物。 然后可以进行测定,检测测试化合物是否抑制tRNA反密码子茎环片段与靶核酸分子的结合。