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1. 发明申请

US20120165203A1 SIMULTANEOUS DETERMINATION OF ANEUPLOIDY AND FETAL FRACTION 审中-公开
标题翻译：同时确定骨质疏松症和骨质疏松症
公开(公告)号：US20120165203A1
公开(公告)日：2012-06-28
申请号：US13365240
申请日：2012-02-02
申请人： Stephen Quake , Richard P. Rava , Manjula Chinnappa , David A. Comstock , Gabrielle Heilek
发明人： Stephen Quake , Richard P. Rava , Manjula Chinnappa , David A. Comstock , Gabrielle Heilek
IPC分类号： C12Q1/68 , C40B20/00
CPC分类号： C12Q1/6869 , C12Q1/6806 , C12Q1/6809 , C12Q1/6883 , C12Q2600/106 , C12Q2537/16 , C12Q2537/165 , C12Q2545/101
摘要： The invention provides compositions and methods for simultaneously determining the presence or absence of fetal aneuploidy and the relative amount of fetal nucleic acids in a sample obtained form a pregnant female. The method encompasses the use of sequencing technologies and exploits the occurrence of polymorphisms to provide a streamlined noninvasive process applicable to the practice of prenatal diagnostics.
摘要翻译：本发明提供用于同时确定胎儿非整倍性的存在或不存在的组合物和方法以及从孕妇获得的样品中的胎儿核酸的相对量。该方法包括使用测序技术，并利用多态性的发生来提供适用于产前诊断实践的流线型非侵入性过程。

2. 发明申请

US20110224087A1 SIMULTANEOUS DETERMINATION OF ANEUPLOIDY AND FETAL FRACTION 审中-公开
标题翻译：同时确定骨质疏松症和骨质疏松症
公开(公告)号：US20110224087A1
公开(公告)日：2011-09-15
申请号：US12958356
申请日：2010-12-01
申请人： Stephen Quake , Richard P. Rava , Manjula Chinnappa , David A. Comstock , Gabrielle Heilek
发明人： Stephen Quake , Richard P. Rava , Manjula Chinnappa , David A. Comstock , Gabrielle Heilek
IPC分类号： C40B30/00 , C40B40/06
CPC分类号： C12Q1/6869 , C12Q1/6806 , C12Q1/6809 , C12Q1/6883 , C12Q2600/106 , C12Q2537/16 , C12Q2537/165 , C12Q2545/101
摘要： The invention provides compositions and methods for simultaneously determining the presence or absence of fetal aneuploidy and the relative amount of fetal nucleic acids in a sample obtained form a pregnant female. The method encompasses the use of sequencing technologies and exploits the occurrence of polymorphisms to provide a streamlined noninvasive process applicable to the practice of prenatal diagnostics.
摘要翻译：本发明提供用于同时确定胎儿非整倍性的存在或不存在的组合物和方法以及从孕妇获得的样品中的胎儿核酸的相对量。该方法包括使用测序技术，并利用多态性的发生来提供适用于产前诊断实践的流线型非侵入性过程。

3. 发明授权

US09441273B2 Non-invasive fetal genetic screening by digital analysis 有权
标题翻译：通过数字分析进行非侵入性胎儿遗传筛选
公开(公告)号：US09441273B2
公开(公告)日：2016-09-13
申请号：US12816043
申请日：2010-06-15
申请人： Stephen Quake , Hei-Mun Christina Fan
发明人： Stephen Quake , Hei-Mun Christina Fan
IPC分类号： C12Q1/68 , C12P19/34
CPC分类号： C12Q1/6883 , C12Q1/6809 , C12Q1/6851 , C12Q1/6858 , C12Q1/6881 , C12Q2600/156 , C12Q2600/158 , Y10T436/143333 , C12Q2565/629 , C12Q2537/143 , C12Q2531/113 , C12Q2537/157 , C12Q2527/125 , C12Q2545/114 , C12Q2527/137
摘要： The present methods are exemplified by a process in which maternal blood containing fetal DNA is diluted to a nominal value of approximately 0.5 genome equivalent of DNA per reaction sample. Digital PCR is then be used to detect aneuploidy, such as the trisomy that causes Down Syndrome. Since aneuploidies do not present a mutational change in sequence, and are merely a change in the number of chromosomes, it has not been possible to detect them in a fetus without resorting to invasive techniques such as amniocentesis or chorionic villi sampling. Digital amplification allows the detection of aneuploidy using massively parallel amplification and detection methods, examining, e.g., 10,000 genome equivalents.
摘要翻译：本方法的例子是一种方法，其中将含有胎儿DNA的母体血液稀释成每反应样品约0.5个基因组当量DNA的标称值。然后使用数字PCR来检测非整倍体，例如导致唐氏综合征的三体性。由于非整倍体并不表现出序列变异，仅仅是染色体数量的变化，所以不可能在胎儿中检测它们，而不需要采用诸如羊膜穿刺或绒毛膜绒毛取样等侵入性技术。数字扩增允许使用大规模并行扩增和检测方法检测非整倍体，检查例如10,000个基因组等同物。

4. 发明申请

US20130001083A1 METHOD AND APPARATUS FOR ANALYSIS AND SORTING OF POLYNUCLEOTIDES BASED ON SIZE 有权
标题翻译：基于尺寸的多核苷酸分析与分选方法与装置
公开(公告)号：US20130001083A1
公开(公告)日：2013-01-03
申请号：US13427815
申请日：2012-03-22
申请人： Stephen Quake , Wayne D. Volksmuth
发明人： Stephen Quake , Wayne D. Volksmuth
IPC分类号： G01N27/447
CPC分类号： G01N27/44791 , B01L3/502707 , B01L3/502738 , B01L3/502761 , B01L2200/0647 , B01L2200/0652 , B01L2300/0654 , B01L2300/0816 , B01L2300/0864 , B01L2400/0415 , B01L2400/0421 , B01L2400/0484 , B01L2400/0487 , C12Q1/6816 , G01N2015/149 , Y10S366/03 , C12Q2565/629
摘要： The invention relates to a microfabricated device and methods of using the device for analyzing and sorting polynucleotide molecules by size.
摘要翻译：本发明涉及一种微加工装置以及使用该装置用于按尺寸分析和分选多核苷酸分子的方法。

5. 发明授权

US07888017B2 Non-invasive fetal genetic screening by digital analysis 有权
标题翻译：通过数字分析进行非侵入性胎儿遗传筛选
公开(公告)号：US07888017B2
公开(公告)日：2011-02-15
申请号：US11701686
申请日：2007-02-02
申请人： Stephen Quake , Hei-Mun Christina Fan
发明人： Stephen Quake , Hei-Mun Christina Fan
IPC分类号： C12Q1/68 , C12P19/34
CPC分类号： C12Q1/6883 , C12Q1/6809 , C12Q1/6851 , C12Q1/6858 , C12Q1/6881 , C12Q2600/156 , C12Q2600/158 , Y10T436/143333 , C12Q2565/629 , C12Q2537/143 , C12Q2531/113 , C12Q2537/157 , C12Q2527/125 , C12Q2545/114 , C12Q2527/137
摘要： The present methods are exemplified by a process in which maternal blood containing fetal DNA is diluted to a nominal value of approximately 0.5 genome equivalent of DNA per reaction sample. Digital PCR is then be used to detect aneuploidy, such as the trisomy that causes Down Syndrome. Since aneuploidies do not present a mutational change in sequence, and are merely a change in the number of chromosomes, it has not been possible to detect them in a fetus without resorting to invasive techniques such as amniocentesis or chorionic villi sampling. Digital amplification allows the detection of aneuploidy using massively parallel amplification and detection methods, examining, e.g., 10,000 genome equivalents.
摘要翻译：本方法的例子是一种方法，其中将含有胎儿DNA的母体血液稀释成每反应样品约0.5个基因组当量DNA的标称值。然后使用数字PCR来检测非整倍体，例如导致唐氏综合征的三体性。由于非整倍体并不表现出序列变异，仅仅是染色体数量的变化，所以不可能在胎儿中检测它们，而不需要采用诸如羊膜穿刺或绒毛膜绒毛取样等侵入性技术。数字扩增允许使用大规模并行扩增和检测方法检测非整倍体，检查例如10,000个基因组等同物。

6. 发明申请

US20070134807A1 Method and device for regulating fluid flow in microfluidic devices 有权
标题翻译：用于调节微流体装置中的流体流动的方法和装置
公开(公告)号：US20070134807A1
公开(公告)日：2007-06-14
申请号：US11588852
申请日：2006-10-27
申请人： Xiaoyan Bao , Stephen Quake , Melvin Simon
发明人： Xiaoyan Bao , Stephen Quake , Melvin Simon
IPC分类号： G01N1/18
CPC分类号： B01L3/5027 , B01L3/502707 , B01L3/502738 , B01L3/502761 , B01L2200/0647 , B01L2300/0816 , B01L2300/0861 , B01L2400/0487 , B01L2400/0655 , B01L2400/084 , G01N1/18 , Y10T137/206 , Y10T137/2076 , Y10T137/2267 , Y10T436/25375
摘要： A method and a microfluidic device are provided to regulate fluid flow by equalization of channel pressures. The fluid flow is regulated by way of valve-actuated channel pressures.
摘要翻译：提供了一种方法和微流体装置，用于通过平衡通道压力来调节流体流动。流体流动通过阀致动通道压力进行调节。

7. 发明申请

US20060196409A1 High throughput screening of crystallization materials 有权
公开(公告)号：US20060196409A1
公开(公告)日：2006-09-07
申请号：US11415672
申请日：2006-05-01
申请人： Stephen Quake , Carl Hansen , James Berger
发明人： Stephen Quake , Carl Hansen , James Berger
IPC分类号： C30B15/14
CPC分类号： C30B29/00 , B01D9/00 , B01D9/0072 , B01D9/0077 , B01J19/0046 , B01J2219/00274 , B01J2219/00286 , B01J2219/00317 , B01J2219/00389 , B01J2219/00418 , B01J2219/00432 , B01J2219/00585 , B01J2219/00756 , B01J2219/00891 , B01J2219/00907 , B01J2219/00952 , B01L3/06 , B01L3/5025 , B01L3/50273 , B01L3/502738 , B01L3/502753 , B01L7/54 , B01L9/527 , B01L2200/025 , B01L2200/027 , B01L2200/0605 , B01L2200/10 , B01L2300/0681 , B01L2300/0816 , B01L2300/0861 , B01L2300/123 , B01L2300/14 , B01L2300/18 , B01L2400/0481 , B01L2400/0655 , B01L2400/0688 , B81B2201/051 , B81B2201/054 , B81B2203/0127 , B81B2203/0315 , B81C1/00119 , B81C99/0065 , C30B7/14 , C30B29/54 , C30B29/58 , F04B43/043 , F16K99/0001 , F16K99/0015 , F16K99/0046 , F16K99/0051 , F16K99/0059 , F16K2099/0074 , F16K2099/0078 , F16K2099/008 , Y10T117/10 , Y10T117/1004 , Y10T117/1008 , Y10T117/1024
摘要： High throughput screening of crystallization of a target material is accomplished by simultaneously introducing a solution of the target material into a plurality of chambers of a microfabricated fluidic device. The microfabricated fluidic device is then manipulated to vary the solution condition in the chambers, thereby simultaneously providing a large number of crystallization environments. Control over changed solution conditions may result from a variety of techniques, including but not limited to metering volumes of crystallizing agent into the chamber by volume exclusion, by entrapment of volumes of crystallizing agent determined by the dimensions of the microfabricated structure, or by cross-channel injection of sample and crystallizing agent into an array of junctions defined by intersecting orthogonal flow channels.

8. 发明申请

US20060171025A1 Microfabricated lenses, method of manufacture thereof, and applications therefor 有权
标题翻译：微晶镜片，其制造方法及其应用
公开(公告)号：US20060171025A1
公开(公告)日：2006-08-03
申请号：US11372156
申请日：2006-03-08
申请人： Stephen Quake , Yann Gambin
发明人： Stephen Quake , Yann Gambin
IPC分类号： G02B21/00
CPC分类号： B29D11/00394 , B01L3/502707 , B01L3/502715 , B01L2300/0654 , B01L2300/0816 , B01L2300/0887 , B29D11/00365 , G02B21/02 , G11B7/1374 , Y10S425/808
摘要： Microfabricated lenses, e.g., solid immersion lens (SIL) structures, are provided along with techniques for constructing these lens structures, as well as selected applications of such lens structures.
摘要翻译：提供微型镜片，例如固体浸没透镜（SIL）结构，以及用于构造这些透镜结构的技术以及这种透镜结构的选择应用。

9. 发明申请

US20050052754A1 Microfabricated rubber microscope using soft solid immersion lenses 失效
标题翻译：微型橡胶显微镜使用软固体浸没透镜
公开(公告)号：US20050052754A1
公开(公告)日：2005-03-10
申请号：US10915943
申请日：2004-08-10
申请人： Stephen Quake , Yann Gambin , Olivier Legrand
发明人： Stephen Quake , Yann Gambin , Olivier Legrand
IPC分类号： G02B1/04 , G02B21/00 , G02B21/33 , G02B3/00
CPC分类号： G02B21/33 , G02B1/041 , G02B21/0008 , C08L83/04
摘要： Soft lithography with surface tension control is used to microfabricate extremely efficient solid immersion lenses (SILs) out of rubber elastomeric material for use in microscope type applications. In order to counteract the surface tension of the mold material in a negative mold that causes creep on a positive mold, material such as RTV is partially cured before use in order to allow the reticulation of polymer chains to change the viscosity of the uncured material in a controllable manner. In a specific embodiment, the techniques of soft lithography with surface tension control are used to make molded SILs out of the elastomer polydimethylsiloxane. The lenses achieve an NA in the range of 1.25. The principle of compound lens design is used to make the first compound solid immersion lens, which is corrected for higher light gathering ability and has a calculated NA=1.32. An important application of these lenses is integrated optics for microfluidic devices, specifically in a handheld rubber microscope for microfluidic flow cytometry.
摘要翻译：使用表面张力控制的软光刻技术可以将非常有效的固体浸没透镜（SIL）从橡胶弹性体材料中微调制成，用于显微镜型应用。为了抵消在负模具中的模具材料的表面张力，其在正模具上引起蠕变，诸如RTV的材料在使用前被部分固化，以便使聚合物链的网状化以改变未固化材料的粘度一种可控的方式。在一个具体的实施方案中，使用表面张力控制的软光刻技术从弹性体聚二甲基硅氧烷中制备模制的SIL。透镜实现NA在1.25的范围内。复合透镜设计的原理是用于制造第一个复合固体浸没透镜，其被更正为更高的聚光能力，并且具有计算的NA = 1.32。这些透镜的重要应用是用于微流体装置的集成光学器件，特别是用于微流体流式细胞术的手持式橡胶显微镜。

10. 发明授权

US09777328B2 Non-invasive fetal genetic screening by digital analysis 有权
公开(公告)号：US09777328B2
公开(公告)日：2017-10-03
申请号：US12689517
申请日：2010-01-19
申请人： Stephen Quake , Hei-Mun Christina Fan
发明人： Stephen Quake , Hei-Mun Christina Fan
IPC分类号： G01N33/50 , C12Q1/68
CPC分类号： C12Q1/6883 , C12Q1/6809 , C12Q1/6851 , C12Q1/6858 , C12Q1/6881 , C12Q2600/156 , C12Q2600/158 , Y10T436/143333 , C12Q2565/629 , C12Q2537/143 , C12Q2531/113 , C12Q2537/157 , C12Q2527/125 , C12Q2545/114 , C12Q2527/137
摘要： The present methods are exemplified by a process in which maternal blood containing fetal DNA is diluted to a nominal value of approximately 0.5 genome equivalent of DNA per reaction sample. Digital PCR is then be used to detect aneuploidy, such as the trisomy that causes Down Syndrome. Since aneuploidies do not present a mutational change in sequence, and are merely a change in the number of chromosomes, it has not been possible to detect them in a fetus without resorting to invasive techniques such as amniocentesis or chorionic villi sampling. Digital amplification allows the detection of aneuploidy using massively parallel amplification and detection methods, examining, e.g., 10,000 genome equivalents.

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