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1. 发明申请

WO2009092035A3 METHODS AND COMPOSITIONS FOR THE ANALYSIS OF BIOLOGICAL MOLECULES 审中-公开
标题翻译：生物分子分析的方法和组合
公开(公告)号：WO2009092035A3
公开(公告)日：2009-10-15
申请号：PCT/US2009031325
申请日：2009-01-16
申请人： SEQUENOM INC , CANTOR CHARLES R
发明人： CANTOR CHARLES R
IPC分类号： C12Q1/68 , C12N15/11
CPC分类号： C12Q1/6818 , C12Q1/6816 , C12Q1/6869 , C12Q2521/501 , C12Q2525/161 , C12Q2563/185
摘要： Provided herein are compositions and methods for analysis of nucleic acids, including, methods and compositions for genotyping, haplotyping, sequencing and performing other genetic and epigenetic analyses on nucleic acids, for example. In some embodiments, methods and compositions suitable for whole-genome sequencing on single molecules of nucleic acid are provided. In some embodiments, analysis of single molecules of nucleic acid are performed in conjunction with nanopores and/or nanopore devices.
摘要翻译：本文提供了用于分析核酸的组合物和方法，包括用于例如基因分型，单倍型，测序和对核酸进行其它遗传和表观遗传学分析的方法和组合物。在一些实施方案中，提供适用于单分子核酸上的全基因组测序的方法和组合物。在一些实施方案中，结合纳米孔和/或纳米孔装置进行单分子核酸的分析。

2. 发明申请

WO2006128010A2 QUANTIFICATION OF NUCLEIC ACIDS AND PROTEINS USING OLIGONUCLEOTIDE MASS TAGS 审中-公开
标题翻译：使用寡核苷酸大小标签对核酸和蛋白质进行定量
公开(公告)号：WO2006128010A2
公开(公告)日：2006-11-30
申请号：PCT/US2006/020470
申请日：2006-05-26
申请人： THE TRUSTEES OF BOSTON UNIVERSITY , CANTOR, Charles, R. , ZHANG, Lingang , KASIF, Simon
发明人： CANTOR, Charles, R. , ZHANG, Lingang , KASIF, Simon
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6816 , C12Q1/6809 , C12Q2565/627 , C12Q2563/167 , C12Q2545/114
摘要： The invention provides a method for detecting and quantifying the amount of target molecules, such as nucleic acids or proteins in a sample. The target molecules are first recognized and bounded by target-specific probes, generally nucleic acids or proteins that bind specifically to the targets, each of which is labeled with a short single-stranded nucleic acid probe, either DNA or RNA, with distinct molecular weight. This label is called an oligonucleotide mass tag. One or several standard oligonucleotide sequences can be designed with similar sequence but distinct molecular weight to those oligonucleotide mass tags. Then the oligonucleotide mass tags associated with bounded probes and the standard sequences are co-amplified using a pair of common primers. The presence and/or amount of each oligonucleotide mass tag, which corresponds to the amount of corresponding target molecule, is determined by a primer extension reaction and quantification of the primer extension product.
摘要翻译：本发明提供了用于检测和定量样品中靶分子如核酸或蛋白质的量的方法。目标分子首先被目标特异性探针识别并结合，通常是与靶标特异性结合的核酸或蛋白质，其中每一个都用不同分子量的短单链核酸探针（DNA或RNA）标记。该标签称为寡核苷酸质量标签。可以设计一个或几个标准寡核苷酸序列，其具有与那些寡核苷酸质量标签相似的序列但分子量不同。然后使用一对普通引物共同扩增与有界探针和标准序列相关的寡核苷酸质粒标签。通过引物延伸反应和引物延伸产物的定量来确定对应于相应靶分子量的每个寡核苷酸质粒标签的存在和/或量。

3. 发明申请

WO2005023091A2 METHOD FOR NON-INVASIVE PRENATAL DIAGNOSIS 审中-公开
标题翻译：非侵入性预后诊断方法
公开(公告)号：WO2005023091A2
公开(公告)日：2005-03-17
申请号：PCT/US2004/028857
申请日：2004-09-07
申请人： THE TRUSTEES OF BOSTON UNIVERSITY , THE CHINESE UNIVERSITY OF HONG KONG , CANTOR, Charles, R. , DING, Chunming , LO, Yuk, Ming, Dennis , CHIU, Rossa, Wai-Kwun
发明人： CANTOR, Charles, R. , DING, Chunming , LO, Yuk, Ming, Dennis , CHIU, Rossa, Wai-Kwun
IPC分类号： A61B
CPC分类号： C12Q1/6881 , C12Q1/6872 , C12Q2600/156 , C12Q2600/172 , C12Q2535/125
摘要： The present invention is directed to methods of detecting nucleic acids in a biological sample. The method is based on a novel combination of a base extension reaction, which provides excellent analytical specificity, and a mass spectrometric analysis, which provides excellent specificity. The method can be used, for example, for diagnostic, prognostic and treatment purposes. The method can be used, for example, for diagnostic, prognostic and treatment purposes. The method allows accurate detection of nucleic acids that are present in very small amounts in a biological sample. For example, the method of the present invention is preferably used to detect fetal nucleic acid in maternal blood sample; circulating tumor-specific nucleic acids in a blood, urine or stool sample; and donor-specific acids in transplant recipients. In another embodiment, one can detect viral, bacterial, fungal, or other foreign nucleic acids in biological sample.
摘要翻译：本发明涉及检测生物样品中核酸的方法。该方法基于提供优异分析特异性的碱基延伸反应和提供优异特异性的质谱分析的新型组合。该方法可用于例如诊断，预后和治疗目的。该方法可用于例如诊断，预后和治疗目的。该方法允许精确检测在生物样品中以非常少的量存在的核酸。例如，本发明的方法优选用于检测母体血液样品中的胎儿核酸; 在血液，尿液或粪便样品中循环肿瘤特异性核酸; 和供体特异性酸在移植受体。在另一个实施方案中，可以检测生物样品中的病毒，细菌，真菌或其它外来核酸。

4. 发明申请

WO2004022721A2 QUANTIFICATION OF GENE EXPRESSION 审中-公开
标题翻译：基因表达的定量
公开(公告)号：WO2004022721A2
公开(公告)日：2004-03-18
申请号：PCT/US2003/028081
申请日：2003-09-05
申请人： THE TRUSTEES OF BOSTON UNIVERSITY , CANTOR, Charles, R. , DING, Chunming
发明人： CANTOR, Charles, R. , DING, Chunming
IPC分类号： C12N
CPC分类号： C12Q1/6851 , C12Q2545/107 , C12Q2535/125 , C12Q2525/186
摘要： The present invention relates to a method for measuring the amount of a target nucleic acid in a sample using a standard which is designed to have one base difference compared with the gene of interest or a "target nucleic acid sequence." Use of such standard in combination with a method of "enhancing" the difference in the standard and the test nucleic acid sample using, for example, a base extension reaction carried right at the mutation site allowing amplification of the standard and target nucleic acids with the same efficiency and facilitating quantification of the target nucleic acid. Thereafter a means of quantifying the "enhanced" standard and target nucleic acid samples is used to determine the amount of the target nucleic acid. In the preferred embodiment, the quantification means is Mass Spectrometry.
摘要翻译：本发明涉及使用设计为与目的基因相比具有一个碱基差的标准或“靶核酸序列”来测量样品中靶核酸量的方法。使用这样的标准物与“增强”标准差异的方法和使用例如在突变位点上携带的碱基延伸反应的测试核酸样品的方法相结合，可以扩增标准品和靶核酸相同的效率和促进目标核酸的定量。此后，使用定量“增强”标准和靶核酸样品的手段来确定靶核酸的量。在优选实施方案中，定量方法是质谱法。

5. 发明申请

WO2003093296A2 KINASE ANCHOR PROTEIN MUTEINS, PEPTIDES THEREOF, AND RELATED METHODS 审中-公开
标题翻译：激酶锚定蛋白，其蛋白及相关方法
公开(公告)号：WO2003093296A2
公开(公告)日：2003-11-13
申请号：PCT/US2003/013698
申请日：2003-05-01
申请人： SEQUENOM, INC. , THE REGENTS OF THE UNIVERSITY OF CALIFORNIA , BRAUN, Andreas , CANTOR, Charles, R. , KAMMERER, Stefan, M. , TAYLOR, Susan , HAMURO, Lora, Burns , COOK, Charles , OLSON, Gary , SELF, Christopher
发明人： BRAUN, Andreas , CANTOR, Charles, R. , KAMMERER, Stefan, M. , TAYLOR, Susan , HAMURO, Lora, Burns , COOK, Charles , OLSON, Gary , SELF, Christopher
IPC分类号： C07K
CPC分类号： C07K14/47 , A01K67/0275 , A01K2207/15 , A01K2217/00 , A01K2217/072 , A01K2227/105 , A01K2267/03
摘要： A-kinase anchor protein (AKAPs) muteins, peptides thereof, and nucleic acids encoding the peptides are provided herein. Also provided are transgenic animals, cells comprising transgenes and various methods employing such peptides.
摘要翻译：本文提供α-激酶锚蛋白（AKAP）突变蛋白，其肽，和编码肽的核酸。还提供了转基因动物，包含转基因的细胞和使用这种肽的各种方法。

6. 发明申请

WO2012088348A2 FETAL GENETIC VARIATION DETECTION 审中-公开
标题翻译：基因遗传变异检测
公开(公告)号：WO2012088348A2
公开(公告)日：2012-06-28
申请号：PCT/US2011/066639
申请日：2011-12-21
申请人： SEQUENOM, INC. , HIXSON, Harry , CANTOR, Charles, R.
发明人： HIXSON, Harry , CANTOR, Charles, R.
IPC分类号： C12Q1/68 , G06F19/22 , G06F19/26
CPC分类号： G06F19/22 , C12Q1/6809 , C12Q1/6827 , C12Q2537/16 , C12Q2537/165
摘要： Provided herein are fetal diagnostic methods, kits and computational products useful for non- invasively detecting genetic variations for which maternal nucleic acid sequences are utilized as a reference.
摘要翻译：本文提供的胎儿诊断方法，试剂盒和计算产品可用于非侵入性检测母体核酸序列用作参照的遗传变异。

7. 发明申请

WO2009092035A2 METHODS AND COMPOSITIONS FOR THE ANALYSIS OF BIOLOGICAL MOLECULES 审中-公开
标题翻译：用于分析生物分子的方法和组合物
公开(公告)号：WO2009092035A2
公开(公告)日：2009-07-23
申请号：PCT/US2009/031325
申请日：2009-01-16
申请人： SEQUENOM, INC. , CANTOR, Charles, R.
发明人： CANTOR, Charles, R.
IPC分类号： C12Q1/68 , C12N15/11
CPC分类号： C12Q1/6818 , C12Q1/6816 , C12Q1/6869 , C12Q2521/501 , C12Q2525/161 , C12Q2563/185
摘要： Provided herein are compositions and methods for analysis of nucleic acids, including, methods and compositions for genotyping, haplotyping, sequencing and performing other genetic and epigenetic analyses on nucleic acids, for example. In some embodiments, methods and compositions suitable for whole-genome sequencing on single molecules of nucleic acid are provided. In some embodiments, analysis of single molecules of nucleic acid are performed in conjunction with nanopores and/or nanopore devices.
摘要翻译：本文提供了用于分析核酸的组合物和方法，包括例如用于基因分型，单元型分型，测序和对核酸进行其他遗传和表观遗传学分析的方法和组合物。在一些实施方案中，提供了适用于单核苷酸分子的全基因组测序的方法和组合物。在一些实施方案中，结合纳米孔和/或纳米孔装置进行单个核酸分子的分析。

8. 发明申请

WO2007051002A3 ACTIVATED SPLIT-POLYPEPTIDES AND METHODS FOR THEIR PRODUCTION AND USE 审中-公开
标题翻译：活性分裂多肽及其生产和使用方法
公开(公告)号：WO2007051002A3
公开(公告)日：2007-08-09
申请号：PCT/US2006042299
申请日：2006-10-27
申请人： UNIV BOSTON , BROUDE NATALIA , CANTOR CHARLES R , DEMIDOV VADIM V
发明人： BROUDE NATALIA , CANTOR CHARLES R , DEMIDOV VADIM V
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883
摘要： The present invention relates to a method to produce activated split-polypeptide fragments that on reconstitution immediately forms an active protein. The method relate to real-time protein complementation. Also encompassed in the invention is a method to split and produce split-fluorescent proteins in an active state which produce a fluorescent signal immediately on reconstitution. The present application also provides methods to detect nucleic acids; non-nucleic acid analytes and nucleic acid hybridization in real-time using the novel activated split-polypeptide fragments of the invention.
摘要翻译：本发明涉及产生活化的分裂多肽片段的方法，其在重建时立即形成活性蛋白质。该方法涉及实时蛋白质互补。本发明还包括分裂并产生处于活性状态的分裂荧光蛋白的方法，其立即在重建时产生荧光信号。本申请还提供了检测核酸的方法; 非核酸分析物和实时核酸杂交使用本发明的新的活化的分裂多肽片段。

9. 发明申请

WO2005035725A3 METHODS FOR PRENATAL DIAGNOSIS OF CHROMOSOMAL ABNORMALITIES 审中-公开
标题翻译：用于临床诊断染色体异常的方法
公开(公告)号：WO2005035725A3
公开(公告)日：2006-06-29
申请号：PCT/US2004033175
申请日：2004-10-08
申请人： UNIV BOSTON , CANTOR CHARLES R , DING CHUNMING
发明人： CANTOR CHARLES R , DING CHUNMING
IPC分类号： C12Q1/68 , C12P19/34
CPC分类号： C12Q1/6883 , C12Q1/6806 , C12Q1/6827 , C12Q1/6876 , C12Q2600/154 , C12Q2600/156 , C12Q2600/166 , C12Q2521/331
摘要： Chromosomal abnormalities are responsible for a significant number of birth defects, including mental retardation. The present invention is related to methods for non-invasive and rapid, prenatal diagnosis of chromosomal abnormalities based on analysis of a maternal blood sample. The invention exploits the differences in DNA between the mother and fetus, for instance differences in their methylation states, as a means to enrich for fetal DNA in maternal plasma sample. The methods described herein can be used to detect chromosomal DNA deletions and duplications. In a preferred embodiment, the methods are used to diagnose chromosomal aneuploidy and related disorders, such as Down's and Turner's Syndrome.
摘要翻译：染色体异常负责大量的出生缺陷，包括精神发育迟滞。本发明涉及基于母体血液样品分析的非侵入性和快速，产前诊断染色体异常的方法。本发明利用母体和胎儿之间的DNA差异，例如甲基化状态的差异，作为富集母体血浆样品中胎儿DNA的手段。本文描述的方法可用于检测染色体DNA缺失和重复。在优选的实施方案中，所述方法用于诊断染色体非整倍性和相关疾病，例如唐氏和特纳氏综合征。

10. 发明申请

WO2005035725A2 METHODS FOR PRENATAL DIAGNOSIS OF CHROMOSOMAL ABNORMALITIES 审中-公开
标题翻译：用于临床诊断染色体异常的方法
公开(公告)号：WO2005035725A2
公开(公告)日：2005-04-21
申请号：PCT/US2004/033175
申请日：2004-10-08
申请人： THE TRUSTEES OF BOSTON UNIVERSITY , CANTOR, Charles, R. , DING, Chunming
发明人： CANTOR, Charles, R. , DING, Chunming
IPC分类号： C12N
CPC分类号： C12Q1/6883 , C12Q1/6806 , C12Q1/6827 , C12Q1/6876 , C12Q2600/154 , C12Q2600/156 , C12Q2600/166 , C12Q2521/331
摘要： Chromosomal abnormalities are responsible for a significant number of birth defects, including mental retardation. The present invention is related to methods for non-invasive and rapid, prenatal diagnosis of chromosomal abnormalities based on analysis of a maternal blood sample. The invention exploits the differences in DNA between the mother and fetus, for instance differences in their methylation states, as a means to enrich for fetal DNA in maternal plasma sample. The methods described herein can be used to detect chromosomal DNA deletions and duplications. In a preferred embodiment, the methods are used to diagnose chromosomal aneuploidy and related disorders, such as Down's and Turner's Syndrome.
摘要翻译：染色体异常负责大量的出生缺陷，包括精神发育迟滞。本发明涉及基于母体血液样品分析的非侵入性和快速，产前诊断染色体异常的方法。本发明利用母体和胎儿之间的DNA差异，例如甲基化状态的差异，作为富集母体血浆样品中胎儿DNA的手段。本文描述的方法可用于检测染色体DNA缺失和重复。在优选的实施方案中，所述方法用于诊断染色体非整倍体和相关疾病，例如唐氏和特纳综合征。

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