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91. 发明授权

EP0815261B1 DNA DIAGNOSTICS BASED ON MASS SPECTROMETRY 失效
标题翻译： DNA诊断，以通过MASS
公开(公告)号：EP0815261B1
公开(公告)日：2003-02-12
申请号：EP96910464.5
申请日：1996-03-18
申请人： SEQUENOM, INC.
发明人： KÖSTER, Hubert , TANG, Kai , FU, Dong-Jing , SIEGIRT, Carsten W. , LITTLE, Daniel P. , HIGGINGS, G.Scott , BRAUN, Andreas , DARNHOFER-DEMAR, Brigitte , JURINKE, Christian
IPC分类号： C12Q1/68 , G01N30/72
CPC分类号： C12Q1/6872 , C12Q1/6816 , C12Q1/6827 , C12Q1/6837 , C12Q1/6858 , C12Q1/686 , C12Q1/6862 , C12Q1/6883 , C12Q1/706 , G01N35/1067 , H01J49/00 , Y10T436/143333 , Y10T436/24 , C12Q2565/627 , C12Q2537/113 , C12Q2535/113 , C12Q2521/325 , C12Q2535/131 , C12Q2525/107 , C12Q2523/107 , C12Q2523/319 , C12Q2565/625 , C12Q2535/125
摘要： The invention provides fast and highly accurate mass spectrometer based processes for detecting a particular nucleic acid sequence in a biological sample. Depending on the sequence to be detected, the processes can be used, for example, to diagnose a genetic disease or chromosomal abnormality; a predisposition to a disease or condition, infection by a pathogenic organism, or for determining identity or heredity.

92. 发明公开

EP1271609A2 Method and apparatus for maldi analysis 失效
标题翻译： Verfahren und Vorrichtung zur MALDI Analyze
公开(公告)号：EP1271609A2
公开(公告)日：2003-01-02
申请号：EP02018808.2
申请日：1997-09-19
申请人： SEQUENOM, INC.
发明人： Higgins, Scott , Reuter, Dirk , Lough, David M. , Hillenkamp, Franz
IPC分类号： H01J49/16
CPC分类号： H01J49/164 , B01J2219/00387 , C40B60/14 , H01J49/0418
摘要： Matrix assisted laser desorption/ionization is performed in a manner to thermalize large analyte ions in a plume of desorbed material for spectroscopic analysis. The thermalized ions have a low or zero mean velocity and are presented at a well-defined instant in time, reducing artifacts and sharpening the spectral peaks. In one embodiment the light is delivered to a matrix or sample holder having a cover, baffle or compartment. The baffle or compartment impedes or contains a plume of desorbed material and the analyte undergoes collisions to lower its mean velocity and directionality. Thus "thermalized" the analyte ions are passed to a mass analysis instrument. In a preferred embodiment an optical fiber butts up against a thin transparent plate on which the specimen resides, with the matrix side in a vacuum acceleration chamber. A mechanical stage moves the specimen in both the x- and y- directions to select a point on the specimen which is to receive the radiation. The use of a fiber optic illuminator allows the entire stage assembly to be subsumed essentially within the dimensions of a conventional stage. In other embodiments, a thermalizing compartment is provided in a capillary tube about the end of the illumination fiber and the sample matrix is deposited along the inner cylindrical wall of the tube, so the capillary forms a migration path to the outlet for thermalization of the desorbed analyte. In other embodiments microstructures having the shape of a small lean-to, overhang or perforated cover plate, or providing a high aspect surface texture, provide the necessary containment to promote thermalization of the released analyte. A thin layer or cover of fibrous or permeable material may also be used to thermalize the analyte before mass analysis, and in another embodiment this material may also act as the substrate. An automated instrument may include a fixed array of illumination fibers which are illuminated at different times to eject samples from a corresponding array of points on the specimen.
摘要翻译：矩阵辅助激光解吸/离子化是为了对用于光谱分析的解吸材料的羽流中的大分析离子进行热化。热化离子具有低或零平均速度，并且以明确的时间瞬间呈现，减少伪像并锐化光谱峰。在一个实施例中，光被传送到具有盖，挡板或隔室的基体或样品保持器。挡板或隔室阻碍或含有一系列解吸材料，分析物经受碰撞以降低其平均速度和方向性。因此，“热化”的分析物离子被传递到质量分析仪器。在一个优选实施例中，光纤与基板一侧在真空加速室中抵靠在该样品所在的薄透明板上。机械台在x和y方向上移动样本，以选择要接收辐射的样品上的点。使用光纤照明器允许整个舞台组件基本上在常规舞台的尺寸内归纳。在其他实施例中，在毛细管中围绕照明光纤的端部设置热化室，并且样品基体沿着管的内圆柱形壁沉积，因此毛细管形成到出口的迁移路径，用于热解解吸附分析物。在其他实施例中，具有小的倾斜，突出或穿孔的盖板的形状或提供高的纵向表面纹理的微结构提供必要的包容以促进释放的分析物的热化。纤维状或可渗透材料的薄层或覆盖层也可用于在质量分析之前对分析物进行热化，并且在另一个实施方案中，该材料也可用作基材。自动化仪器可以包括固定的照明光纤阵列，其在不同时间被照射以从样本上的相应的点阵列喷出样品。

93. 发明公开

EP1262564A2 Dna sequencing by mass spectrometry 失效
标题翻译： Dns-Sequenzierung durch Massenspektrometrie
公开(公告)号：EP1262564A2
公开(公告)日：2002-12-04
申请号：EP02016384.6
申请日：1994-01-06
申请人： SEQUENOM, INC.
发明人： Köster, Hubert
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6827 , C12Q1/6816 , C12Q1/6872 , G01N35/1067 , Y10S435/81 , Y10T436/143333 , Y10T436/24 , Y10T436/25 , C12Q2565/627 , C12Q2563/167 , C12Q2537/113 , C12Q2537/143
摘要： The invention describes a new method to sequence DNA. The improvements over the existing DNA sequencing technologies are high speed, high throughput, no electrophoresis and gel reading artifacts due to the complete absence of an electrophoretic step, and no costly reagents involving various substitutions with stable isotopes. The invention utilizes the Sanger sequencing strategy and assembles the sequence information by analysis of the nested fragments obtained by base-specific chain termination via their different molecular masses using mass spectrometry, as for example, MALDI or ES mass spectrometry. A further increase in throughput can be obtained by introducing mass-modifications in the oligonucleotide primer, chain-terminating nucleoside triphosphates and/or in the chain-elongating nucleoside triphosphates, as well as using integrated tag sequences which allow multiplexing by hybridization of tag specific probes with mass-differentiated molecular weights.
摘要翻译：本发明描述了一种新的DNA序列化方法。由于完全不存在电泳步骤，现有DNA测序技术的改进是高速度，高通量，无电泳和凝胶读数伪像，并且没有昂贵的试剂涉及具有稳定同位素的各种取代。本发明利用Sanger测序策略，并通过使用质谱法，例如MALDI或ES质谱法，通过分析通过其不同分子量通过碱基特异性链终止获得的嵌套片段来组装序列信息。通过在寡核苷酸引物，链终止的三磷酸核苷和/或在延伸链的三磷酸的链中引入质量修饰，以及使用允许通过标签特异性探针的杂交进行多重复合的整合的标签序列，可以获得通量的进一步增加具有质量分化的分子量。

94. 发明授权

EP0914471B1 METHOD FOR DISSOCIATING BIOTIN COMPLEXES 失效
标题翻译：方法解离素复合物作者：
公开(公告)号：EP0914471B1
公开(公告)日：2002-04-03
申请号：EP97926469.4
申请日：1997-05-13
申请人： SEQUENOM, INC.
发明人： JURINKE, Christian , VAN DEN BOOM, Dirk , KÖSTER, Hubert
IPC分类号： C12Q1/68
CPC分类号： G01N33/53 , C12Q1/6823 , C12Q1/6834 , C12Q1/6869 , C12Q2565/627 , C12Q2563/131 , C12Q2565/518
摘要： A method for dissociating a complex of a biotin compound and a biotin-binding compound, by contacting the complex with an amine, is disclosed.

95. 发明公开

EP0937097A1 COMPOSITIONS AND METHODS FOR IMMOBILIZING NUCLEIC ACIDS TO SOLID SUPPORTS 无效
标题翻译：组合物和方法，进行固定NUCLEIC HARD媒体
公开(公告)号：EP0937097A1
公开(公告)日：1999-08-25
申请号：EP97947374.0
申请日：1997-11-06
申请人： SEQUENOM, INC.
发明人： LOUGH, David, M. , KÖSTER, Hubert
IPC分类号： G01N37 , B01J19 , B01L3 , C07B61 , C07F9 , C07H21 , C07K17 , C12M1 , C12N15 , C12Q1 , G01N33 , C40B40 , C40B60 , G01N35
CPC分类号： B01L3/0255 , B01J19/0046 , B01J2219/00315 , B01J2219/00317 , B01J2219/00387 , B01J2219/00468 , B01J2219/00497 , B01J2219/005 , B01J2219/00504 , B01J2219/00511 , B01J2219/0052 , B01J2219/00527 , B01J2219/00585 , B01J2219/00596 , B01J2219/00605 , B01J2219/00612 , B01J2219/00617 , B01J2219/00626 , B01J2219/0063 , B01J2219/00637 , B01J2219/00648 , B01J2219/00659 , B01J2219/0072 , B01J2219/00722 , B01J2219/00725 , C07B2200/11 , C07F9/2408 , C07F9/2429 , C07H21/00 , C12Q1/6834 , C40B40/06 , C40B40/10 , C40B60/14 , G01N35/1067 , G01N35/1074 , G01N2035/00237 , G01N2035/1037 , G01N2035/1069 , C12Q2563/131 , C12Q2523/319
摘要： Compositions containing at least one bead conjugated to a solid support and further conjugated to at least one macromolecule, such as a nucleic acid and methods for making the compositions are provided. The resulting surfaces formed from the beads linked to the solid support advantageously provide increased surface area for immobilization of biological particles or macromolecules, particularly nucleic acids compared to 'flat' surfaces. Furthermore, by selecting a bead with the desired functionality, an appropriate functionalization chemistry for immobilizing the selected macromolecule or biological support, which is different from the chemistry of the solid support, can be produced.

96. 发明授权

EP3699291B1 SINGLE MOLECULE NUCLEIC ACID SEQUENCE ANALYSIS PROCESSES AND COMPOSITIONS 有权
公开(公告)号：EP3699291B1
公开(公告)日：2024-08-07
申请号：EP19214834.4
申请日：2009-01-15
IPC分类号： C12Q1/68 , C12Q1/6806 , C12Q1/6837 , C12Q1/6844
CPC分类号： C12Q1/6806 , C12Q1/6844 , C12Q1/6837

97. 发明授权

EP2764459B1 METHODS AND PROCESSES FOR NON-INVASIVE ASSESSMENT OF GENETIC VARIATIONS 有权
公开(公告)号：EP2764459B1
公开(公告)日：2021-06-30
申请号：EP12777999.9
申请日：2012-10-05
发明人： DECIU, Cosmin , DZAKULA, Zeljko , EHRICH, Mathias , KIM, Sung, Kyun
IPC分类号： G16B20/00 , C12Q1/6827

98. 发明公开

EP3730629A1 METHODS AND PROCESSES FOR NON-INVASIVE ASSESSMENT OF GENETIC VARIATIONS 审中-公开
公开(公告)号：EP3730629A1
公开(公告)日：2020-10-28
申请号：EP20172801.1
申请日：2015-10-09
申请人： Sequenom, Inc.
发明人： Deciu, Cosmin , Zhao, Chen
IPC分类号： C12Q1/6869 , G16B30/00
摘要： The present invention relates to a method for partitioning a reference genome, or part thereof, into a plurality of portions comprising generating a guanine and cytosine (GC) profile for a reference genome, or part thereof; applying a segmenting process to the GC profile generated in (a), thereby providing discrete segments; and partitioning the reference genome, or part thereof, into a plurality of portions according to the discrete segments provided in (b), thereby generating a GC partitioned reference genome, or part thereof.

99. 发明公开

EP3617321A2 METHODS AND COMPOSITIONS FOR THE EXTRACTION AND AMPLIFICATION OF NUCLEIC ACID FROM A SAMPLE 审中-实审
公开(公告)号：EP3617321A2
公开(公告)日：2020-03-04
申请号：EP19183631.1
申请日：2007-05-30
申请人： Sequenom, Inc.
发明人： HOYAL-WRIGHTSON, Carolyn R. , BRAUN, Andreas , SCHMIDT, Karsten E.
IPC分类号： C12Q1/68 , C12P19/34 , C12N15/10
摘要： Provided herein are methods, compositions and kits to extract and relatively enrich by physical separation or amplification short base pair nucleic acid in the presence of a high background of genomic material (e.g., host or maternal nucleic acids).

100. 发明公开

EP3591067A1 METHODS AND PROCESSES FOR NON-INVASIVE ASSESSMENT OF GENETIC VARIATIONS 有权
公开(公告)号：EP3591067A1
公开(公告)日：2020-01-08
申请号：EP19171875.8
申请日：2013-10-03
申请人： Sequenom, Inc.
发明人： MAZLOOM, Amin , DZAKULA, Zelijko , DECIU, Cosmin
IPC分类号： C12Q1/68 , C12Q1/6883 , C12Q1/6869 , G16B30/00 , G16B40/00
摘要： Provided herein are methods, processes, systems and apparatuses for non-invasive assessment of genetic variations.

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