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    METHOD AND COMPOSITIONS FOR DETECTION AND ENUMERATION OF GENETIC VARIATIONS
    2.
    发明申请
    METHOD AND COMPOSITIONS FOR DETECTION AND ENUMERATION OF GENETIC VARIATIONS 审中-公开
    用于检测和产生遗传变异的方法和组合物

    公开(公告)号：WO2005010145A2

    公开(公告)日：2005-02-03

    申请号：PCT/US2004/015587

    申请日：2004-06-09

    Applicant: THE JOHNS HOPKINS UNIVERSITY ,  DRESSMAN, Devin ,  YAN, Hai ,  KINZLER, Kenneth, W. ,  VOGELSTEIN, Bert

    Inventor： DRESSMAN, Devin ,  YAN, Hai ,  KINZLER, Kenneth, W. ,  VOGELSTEIN, Bert

    IPC: C12N

    CPC classification number: C12Q1/6858 ,  C07H21/04 ,  C12N15/1075 ,  C12Q1/686 ,  C12Q2565/537 ,  C12Q2563/149 ,  C12Q2563/143

    Abstract: Many areas of biomedical research depend on the analysis of uncommon variations in individual genes or transcripts. Here we describe a method that can quantify such variation at a scale and ease heretofore unattainable. Each DNA molecule in a collection of such molecules is converted into a single particle to which thousands of copies of DNA identical in sequence to the original are bound. This population of beads then corresponds to a one-to-one representation of the starting DNA molecules. Variation within the original population of DNA molecules can then be simply assessed by counting fluorescently-labeled particles via flow cytometry. Millions of individual DNA molecules can be assessed in this fashion with standard laboratory equipment. Moreover, specific variants can be isolated by flow sorting and employed for further experimentation. This approach can be used for the identification and quantification of rare mutations as well as to study variations in gene sequences or transcripts in specific populations or tissues.

    Abstract translation: 生物医学研究的许多领域取决于对个别基因或转录本中不常见变异的分析。 在这里，我们描述一种可以量化这种变化的方法，其规模和容易度迄今为止是无法实现的。 将这样的分子的集合中的每个DNA分子转化成单个颗粒，其中与原始序列顺序相同的数千个拷贝的DNA被结合。 这种珠子群对应于起始DNA分子的一对一表示。 然后可以通过流式细胞术对荧光标记的颗粒进行计数，简单地评估原始DNA分子群体内的变异。 可以用标准实验室设备以这种方式评估数百万个单独的DNA分子。 此外，可以通过流动分选分离特定的变体并用于进一步的实验。 该方法可用于鉴定和定量稀有突变，并研究特定群体或组织中基因序列或转录本的变异。

    SEQUENCING METHODS
    3.
    发明申请
    SEQUENCING METHODS 审中-公开
    序列方法

    公开(公告)号：WO2013019361A1

    公开(公告)日：2013-02-07

    申请号：PCT/US2012/045783

    申请日：2012-07-06

    Applicant: LIFE TECHNOLOGIES CORPORATION ,  MYERS, Jason ,  CHEN, Zhoutao ,  DRESSMAN, Devin ,  NIKIFOROV, Theo

    Inventor： MYERS, Jason ,  CHEN, Zhoutao ,  DRESSMAN, Devin ,  NIKIFOROV, Theo

    IPC: C12Q1/68

    CPC classification number: C12Q1/6874 ,  C12Q1/6806 ,  C12Q1/6869 ,  C12Q2521/307 ,  C12Q2521/325 ,  C12Q2525/125 ,  C12Q2535/119 ,  C12Q2565/518

    Abstract: Provided herein are compositions, systems, methods and kits useful for obtaining sequence information from a nucleic acid molecule. In some embodiments, the compositions, systems, methods and kits are useful for sequencing of natural or modified nucleic acids. In some embodiments, the compositions, systems, methods and kits relate to bi-directional sequencing of nucleic acids. In some embodiments, the compositions, systems, methods and kits relate to sequencing of nucleic acids linked to a solid support. In some embodiments, the methods useful for obtaining sequence information from a nucleic acid molecule include label-free or ion-based sequencing methods.

    Abstract translation: 本文提供了可用于从核酸分子获得序列信息的组合物，系统，方法和试剂盒。 在一些实施方案中，组合物，系统，方法和试剂盒可用于测序天然或修饰的核酸。 在一些实施方案中，组合物，系统，方法和试剂盒涉及核酸的双向测序。 在一些实施方案中，组合物，系统，方法和试剂盒涉及与固体支持物连接的核酸的测序。 在一些实施方案中，可用于从核酸分子获得序列信息的方法包括无标记或基于离子的测序方法。

    METHOD AND COMPOSITIONS FOR DETECTION AND ENUMERATION OF GENETIC VARIATIONS
    5.
    发明申请
    METHOD AND COMPOSITIONS FOR DETECTION AND ENUMERATION OF GENETIC VARIATIONS 审中-公开
    用于检测和遗传变异计算的方法和组合物

    公开(公告)号：WO2005010145A3

    公开(公告)日：2005-08-11

    申请号：PCT/US2004015587

    申请日：2004-06-09

    Applicant: UNIV JOHNS HOPKINS ,  DRESSMAN DEVIN ,  YAN HAI ,  KINZLER KENNETH W ,  VOGELSTEIN BERT

    Inventor： DRESSMAN DEVIN ,  YAN HAI ,  KINZLER KENNETH W ,  VOGELSTEIN BERT

    IPC: C07H21/04 ,  C12N20060101 ,  C12N15/10 ,  C12Q1/68

    CPC classification number: C12Q1/6858 ,  C07H21/04 ,  C12N15/1075 ,  C12Q1/686 ,  C12Q2565/537 ,  C12Q2563/149 ,  C12Q2563/143

    Abstract: Many areas of biomedical research depend on the analysis of uncommon variations in individual genes or transcripts. Here we describe a method that can quantify such variation at a scale and ease heretofore unattainable. Each DNA molecule in a collection of such molecules is converted into a single particle to which thousands of copies of DNA identical in sequence to the original are bound. This population of beads then corresponds to a one-to-one representation of the starting DNA molecules. Variation within the original population of DNA molecules can then be simply assessed by counting fluorescently-labeled particles via flow cytometry. Millions of individual DNA molecules can be assessed in this fashion with standard laboratory equipment. Moreover, specific variants can be isolated by flow sorting and employed for further experimentation. This approach can be used for the identification and quantification of rare mutations as well as to study variations in gene sequences or transcripts in specific populations or tissues.

    Abstract translation: 生物医学研究的许多领域取决于对个别基因或转录本中罕见变异的分析。 在这里我们描述一种方法，可以量化这种变化的规模和缓解迄今为止无法实现。 这些分子集合中的每个DNA分子都被转化为一个单一的颗粒，数千个拷贝的DNA序列与原始序列相同。 然后这个珠子群对应于起始DNA分子的一对一表示。 然后可以通过流式细胞术计数荧光标记的颗粒来简单评估原始DNA分子群体内的变化。 数百万个体DNA分子可以用这种方式用标准的实验室设备进行评估。 此外，可以通过流分选分离特定的变体并用于进一步的实验。 这种方法可用于鉴定和量化罕见突变，以及研究特定人群或组织中基因序列或转录本的变异。

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