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1. 发明公开

EP1524321A1 Non-invasive detection of fetal genetic traits 有权转让
标题翻译： Nicht invasiver Nachweisfötalergenetischer Merkmale
公开(公告)号：EP1524321A1
公开(公告)日：2005-04-20
申请号：EP03405742.2
申请日：2003-10-16
申请人： Hahn, Sinuhe, Dr. , Zimmermann, Bernhard , Holzgreve, Wolfgang, Prof. , Li, Ying
发明人： Hahn, Sinuhe, Dr. , Zimmermann, Bernhard , Holzgreve, Wolfgang, Prof. , Li, Ying
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , C12Q1/6806 , C12Q2600/156 , C12Q2565/125
摘要： Blood plasma of a pregnant woman contains both fetal and maternal circulatory extracellular DNA, the latter forming the major part (generally > 90%) thereof. The majority of the circulatory extracellular fetal DNA has now been found to have a small size of approximately 500 base pairs or less whereas the majority of the circulatory extracellular maternal DNA has a size greater than approximately 500 base pairs. Separation of circulatory extracellular DNA fragments which are smaller than approximately 500 base pairs provides a possibility to enrich for fetal DNA sequences from the vast bulk of circulatory extracellular maternal DNA.
There is thus provided a sample of the blood plasma or serum (which preferably is substantially cell-free) of a pregnant woman in which extracellular DNA comprising 500 base pairs or less is enriched; the manufacture of such sample by subjecting a sample of the blood plasma or serum of a pregnant woman to a size separation so as to enrich extracellular DNA comprising 500 base pairs or less; and the use of such sample for the non-invasive detection of fetal genetic traits.
摘要翻译：孕妇的血浆含有胎儿和母体的循环细胞外DNA，后者形成主要部分（通常> 90％）。现在已经发现大多数循环细胞外胎儿DNA具有约500个碱基对或更小的小尺寸，而大多数循环细胞外母体DNA具有大于约500个碱基对的大小。小于约500碱基对的循环细胞外DNA片段的分离提供了从大量循环细胞外母体DNA中丰富胎儿DNA序列的可能性。因此，提供了富含500碱基对或更少的胞外DNA的孕妇血浆或血清（优选基本上不含细胞）的样品; 通过对怀孕妇女的血浆或血清样品进行大小分离以富集包含500个碱基对或更少的细胞外DNA的方式制备这种样品; 以及使用这种样品进行胎儿遗传性状的非侵入性检测。

2. 发明申请

WO2012108920A1 METHODS FOR NON-INVASIVE PRENATAL PLOIDY CALLING 审中-公开
标题翻译：非侵入式预防性呼吸方法
公开(公告)号：WO2012108920A1
公开(公告)日：2012-08-16
申请号：PCT/US2011/061506
申请日：2011-11-18
申请人： NATERA, INC , RABINOWITZ, Matthew , GEMELOS, George , BANJEVIC, Milena , RYAN, Allison , DEMKO, Zachary , HILL, Matthew , ZIMMERMANN, Bernhard , BANER, Johan
发明人： RABINOWITZ, Matthew , GEMELOS, George , BANJEVIC, Milena , RYAN, Allison , DEMKO, Zachary , HILL, Matthew , ZIMMERMANN, Bernhard , BANER, Johan
IPC分类号： G06F19/22 , G01N33/48
CPC分类号： C12Q1/6869 , C12Q1/6806 , C12Q1/6827 , C12Q1/6862 , C12Q1/6874 , C12Q1/6883 , C12Q2600/156 , G06F19/18 , G06F19/24 , C12Q2537/161 , C12Q2537/165
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母体和胎儿的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确定胎儿胎儿的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胎儿倍性状态的多个预期等位基因分布，并将预期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接近的倍性状态。 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。

3. 发明申请

WO2011146632A1 METHODS FOR NON-INVASIVE PRENATAL PLOIDY CALLING 审中-公开
标题翻译：非侵入式预防性呼吸方法
公开(公告)号：WO2011146632A1
公开(公告)日：2011-11-24
申请号：PCT/US2011/037018
申请日：2011-05-18
申请人： GENE SECURITY NETWORK INC. , RABINOWITZ, Matthew , GEMELOS, George , BANJEVIC, Milena , RYAN, Allison , DEMKO, Zachary , HILL, Matthew , ZIMMERMANN, Bernhard , BANER, Johan
发明人： RABINOWITZ, Matthew , GEMELOS, George , BANJEVIC, Milena , RYAN, Allison , DEMKO, Zachary , HILL, Matthew , ZIMMERMANN, Bernhard , BANER, Johan
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , C12Q1/6827 , C12Q1/6869 , C12Q2537/161 , C12Q2537/165 , C12Q2600/112 , C12Q2600/156 , C12Q2600/16 , C12Q2600/172 , G06F19/00 , G06F19/12 , G06F19/18 , G06F19/22 , G06F19/34 , G16H50/30
摘要： Methods for non-invasive prenatal ploidy calling are disclosed herein. Methods for determining the ploidy status of a chromosome in a gestating fetus from genotypic data measured from a sample of DNA from the mother of the fetus and from the fetus, and from genotypic data from the mother and optionally also from the father are disclosed herein. The ploidy state is determined by using a joint distribution model to create a set 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. In an embodiment, the mixed sample of DNA may be preferentially enriched at a plurality of polymorphic loci in a way that minimizes the allelic bias.
摘要翻译：本文公开了非侵入性产前倍性呼叫的方法。本文公开了从胎儿母体和胎儿的DNA样本以及来自母亲和任选也来自父亲的基因型数据测量的基因型数据中确定妊娠胎儿染色体倍性状态的方法。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胎儿倍性状态的一组预期等位基因分布，并将预期等位基因分布与在混合样品中测量的测量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接近的倍性状态。在一个实施方案中，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位点。

4. 发明申请

WO2011053790A3 ASSAY OF CLOSELY LINKED GENETIC TARGETS IN FETAL DIAGNOSIS 审中-公开
标题翻译：诊断遗传联系遗传基因目标的方法
公开(公告)号：WO2011053790A3
公开(公告)日：2011-07-07
申请号：PCT/US2010054728
申请日：2010-10-29
申请人： FLUIDIGM CORP , ZIMMERMANN BERNHARD GEORG , UNGER MARC
发明人： ZIMMERMANN BERNHARD GEORG , UNGER MARC
IPC分类号： A61K48/00 , C07K14/00
CPC分类号： C12Q1/6827 , C12Q2545/114
摘要： Methods for detecting chromosomal aneuploidy of a specified chromosome or chromosome region are provided. Also provided are methods for genetic analysis of heterogeneously sized chromosomal DNA fragments. The methods are useful for non-invasive prenatal diagnosis and other genetic analyses.
摘要翻译：提供了检测特定染色体或染色体区域染色体非整倍性的方法。还提供了用于遗传分析不均匀大小的染色体DNA片段的方法。该方法可用于非侵入性产前诊断和其他遗传分析。

5. 发明申请

WO2010088288A3 DETERMINATION OF COPY NUMBER DIFFERENCES BY AMPLIFICATION 审中-公开
公开(公告)号：WO2010088288A3
公开(公告)日：2010-08-05
申请号：PCT/US2010/022258
申请日：2010-01-27
申请人： FLUIDIGM CORPORATION , DUBE, Simant , MIR, Alain , RAMAKRISHNAN, Ramesh , WEAVER, Lesley Suzanne , ZIMMERMANN, Bernhard G.
发明人： DUBE, Simant , MIR, Alain , RAMAKRISHNAN, Ramesh , WEAVER, Lesley Suzanne , ZIMMERMANN, Bernhard G.
IPC分类号： C12Q1/68 , C12N15/10
摘要： The present invention provides for determining relative copy number difference for one or more target nucleic acid sequences between a test sample and a reference sample or reference value derived therefrom. The methods facilitate the detection of copy number differences less than 1.5-fold.

6. 发明申请

WO2010027870A2 ASSAY METHODS FOR INCREASED THROUGHPUT OF SAMPLES AND/OR TARGETS 审中-公开
标题翻译：分析方法增加样品和/或目标的吞吐量
公开(公告)号：WO2010027870A2
公开(公告)日：2010-03-11
申请号：PCT/US2009/055083
申请日：2009-08-26
申请人： FLUIDIGM CORPORATION , MIR, Alain , RAMAKRISHNAN, Ramesh , UNGER, Marc , ZIMMERMANN, Bernhard, G.
发明人： MIR, Alain , RAMAKRISHNAN, Ramesh , UNGER, Marc , ZIMMERMANN, Bernhard, G.
IPC分类号： C12Q1/68 , C12N15/11
CPC分类号： C12Q1/686 , C12N15/1065 , C12Q1/6853 , Y10T436/143333 , C12Q2537/143 , C12Q2525/161
摘要： The present invention provides assay methods that increase the number of samples and/or target nucleic acids that can be analyzed in a single assay.
摘要翻译：本发明提供了增加可以在单个测定中分析的样品和/或靶核酸的数量的测定方法。

7. 发明申请

WO2006028545A2 SUBSTITUTED IMIDAZOQUINOLINES, IMIDAZOPYRIDINES, AND IMIDAZONAPHTHYRIDINES 审中-公开
标题翻译：取代的咪唑啉啉，咪唑并吡啶和咪唑并吡啶
公开(公告)号：WO2006028545A2
公开(公告)日：2006-03-16
申请号：PCT/US2005/021445
申请日：2005-06-17
申请人： 3M INNOVATIVE PROPERTIES COMPANY , STOERMER, Doris , DELLARIA, Joseph, F., Jr. , AMOS, David, T. , ZIMMERMANN, Bernhard, M. , DRESSEL, Luke, T. , BONK, Jason, D. , RADMER, Matthew, R.
发明人： STOERMER, Doris , DELLARIA, Joseph, F., Jr. , AMOS, David, T. , ZIMMERMANN, Bernhard, M. , DRESSEL, Luke, T. , BONK, Jason, D. , RADMER, Matthew, R.
IPC分类号： A61K31/4745
CPC分类号： C07D471/04 , C07D471/14
摘要： Imidazo-quinoline, -pyridine, and -naphthyridine ring systems (particularly quinolines, tetrahydroquinolines, pyridines, [1,5]naphthyridines, [1,5]tetrahydronaphthyridines) substituted at the 1-position with a cyclic substituent, pharmaceutical compositions containing the compounds, methods of making these compounds, and methods of use of these compounds as immunomodulators, for inducing cytokine biosynthesis in animals and in the treatment of diseases including viral and neoplastic diseases are disclosed.
摘要翻译：咪唑并喹啉，吡啶和萘啶环体系（特别是在1位被环状取代基取代的喹啉，四氢喹啉，吡啶，[1,5]萘啶，[1,5]四氢萘啶），含有化合物公开了制备这些化合物的方法，以及这些化合物作为免疫调节剂的用途，用于诱导动物中的细胞因子生物合成和治疗包括病毒和肿瘤疾病在内的疾病。

8. 发明申请

WO2005051324A2 HYDROXYLAMINE AND OXIME SUBSTITUTED IMIDAZOQUINOLINES, IMIDAZOPYRIDINES, AND IMIDAZONAPHTHYRIDINES 审中-公开
标题翻译：羟基胺和氧化物取代的咪唑啉酮，咪唑并吡啶和咪唑并噻吩
公开(公告)号：WO2005051324A2
公开(公告)日：2005-06-09
申请号：PCT/US2004/039673
申请日：2004-11-24
申请人： 3M INNOVATIVE PROPERTIES COMPANY , KREPSKI, Larry R., , DELLARIA, Joseph F., Jr., , DUFFY, Daniel E., , AMOS, David T., , ZIMMERMANN, Bernhard M., , SQUIRE, David J., , MARSZALEK, Gregory J., , HEPPNER, Philip D., , KSHIRSAGAR, Tushar A.,
发明人： KREPSKI, Larry R., , DELLARIA, Joseph F., Jr., , DUFFY, Daniel E., , AMOS, David T., , ZIMMERMANN, Bernhard M., , SQUIRE, David J., , MARSZALEK, Gregory J., , HEPPNER, Philip D., , KSHIRSAGAR, Tushar A.,
IPC分类号： A61K
CPC分类号： C07D471/04 , C07D471/14
摘要： Imidazo-quinoline, -pyridine, and -naphthyridine ring systems substituted at the 1-position, pharmaceutical compositions containing the compounds, intermediates, and methods of use of these compounds as immunomodulators, for inducing cytokine biosynthesis in animals and in the treatment of diseases including viral and neoplastic diseases are disclosed.
摘要翻译：在1-位取代的咪唑并喹啉，吡啶和萘啶环体系，含有这些化合物的化合物，中间体和使用方法作为免疫调节剂的药物组合物，用于在动物中诱导细胞因子生物合成和治疗疾病，包括公开了病毒和肿瘤疾病。

9. 发明申请

WO1992000594A1 RHEOSTATIC SWITCHING ARRANGEMENT 审中-公开
标题翻译：高压切换装置
公开(公告)号：WO1992000594A1
公开(公告)日：1992-01-09
申请号：PCT/DE1991000529
申请日：1991-06-27
申请人： MARQUARDT GMBH , ZIMMERMANN, Bernhard , NIKLEWSKI, Gerhard
发明人： MARQUARDT GMBH
IPC分类号： H01C10/30
CPC分类号： H01C10/30 , H01H9/061 , H01H2011/0075 , H05K1/181 , H05K2201/10022 , H05K2201/10196 , H05K2201/10636 , Y02P70/611
摘要： A switch, in particular for regulating the speed of rotation of electric motors or the like, has a surface mounted resistance element that acts as a resistance path for regulating the speed of rotation. As a result, the printed circuit board and the resistance path can be separately produced and individually optimized. Modern manufacturing processes, such as automatic surface mounting and laser equalization, may be used independently from the usual printed circuit board assembly, thus allowing an economic industrial scale manufacture to be obtained.

10. 发明申请

WO2014018080A1 HIGHLY MULTIPLEX PCR METHODS AND COMPOSITIONS 审中-公开
标题翻译：高度多重PCR方法和组合物
公开(公告)号：WO2014018080A1
公开(公告)日：2014-01-30
申请号：PCT/US2012/066339
申请日：2012-11-21
申请人： NATERA, INC. , ZIMMERMANN, Bernhard , HILL, Matthew M. , LACROUTE, Philippe Gilbert , DODD, Michael
发明人： ZIMMERMANN, Bernhard , HILL, Matthew M. , LACROUTE, Philippe Gilbert , DODD, Michael
IPC分类号： C12Q1/68
CPC分类号： C12Q1/686 , G06F19/18 , G06F19/22 , C12Q2537/143
摘要： The invention provides methods for simultaneously amplifying multiple nucleic acid regions of interest in one reaction volume as well as methods for selecting a library of primers for use in such amplification methods. The invention also provides library of primers with desirable characteristics, such as minimal formation of amplified primer dimers or other non-target amplicons.
摘要翻译：本发明提供了在一个反应体积中同时扩增多个核酸区域的方法以及用于选择用于这种扩增方法的引物文库的方法。本发明还提供具有所需特征的引物文库，例如扩增引物二聚体或其他非靶扩增子的最小形成。

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