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1. 发明申请

WO2014014498A1 DETECTING AND CLASSIFYING COPY NUMBER VARIATION IN A FETAL GENOME 审中-公开
标题翻译：检测和分类在基因组中的复制数变化
公开(公告)号：WO2014014498A1
公开(公告)日：2014-01-23
申请号：PCT/US2013/023909
申请日：2013-01-30
申请人： VERINATA HEALTH, INC. , RAVA, Richard, P. , CHINNAPPA, Manjula , COMSTOCK, David, A. , SRINIVASAN, Anupama
发明人： RAVA, Richard, P. , CHINNAPPA, Manjula , COMSTOCK, David, A. , SRINIVASAN, Anupama
IPC分类号： C12Q1/68 , G06F19/22
CPC分类号： C12Q1/6809 , G06F19/18 , G06F19/22 , C12Q2537/16 , C12Q2537/165 , C12Q2545/101
摘要： The invention provides a method for determining copy number variations (CNV) of a sequence of interest in a test sample that comprises a mixture of nucleic acids that are known or are suspected to differ in the amount of one or more sequence of interest. The method comprises a statistical approach that accounts for accrued variability stemming from process-related, interchromosomal and inter-sequencing variability. The method is applicable to determining CNV of any fetal aneuploidy, and CNVs known or suspected to be associated with a variety of medical conditions. CNV that can be determined according to the method include trisomies and monosomies of any one or more of chromosomes 1-22, X and Y, other chromosomal polysomies, and deletions and/or duplications of segments of any one or more of the chromosomes, which can be detected by sequencing only once the nucleic acids of a test sample.
摘要翻译：本发明提供了一种用于确定测试样品中感兴趣的序列的拷贝数变异（CNV）的方法，其包括已知或怀疑在一个或多个感兴趣序列的量上不同的核酸的混合物。该方法包括统计方法，其考虑了由过程相关的染色体间和序列间变异性引起的应变变异性。该方法适用于确定任何胎儿非整倍性的CNV，以及已知或怀疑与各种医学状况相关的CNV。可以根据该方法确定的CNV包括染色体1-22，X和Y，其他染色体多糖体中的任何一个或多个的三体和单体，以及任何一个或多个染色体的区段的缺失和/或重复，其中只能通过测试一次测试样品的核酸来检测。

2. 发明申请

WO1997039151A1 PHOTOLABILE POLYMER ARRAY SYNTHESIS METHODS 审中-公开
标题翻译：可溶性聚合物阵列合成方法
公开(公告)号：WO1997039151A1
公开(公告)日：1997-10-23
申请号：PCT/US1997006535
申请日：1997-04-16
申请人： AFFYMETRIX, INC. , GOLDBERG, Martin , DIGGELMAN, Martin , HUBBELL, Earl , MCGALL, Glenn , NGO, Nam, Quoc , MORRIS, Macdonald , YAMAMOTO, Mel , TAN, Jennifer , RAVA, Richard, P.
发明人： AFFYMETRIX, INC.
IPC分类号： C12Q01/68
CPC分类号： C07K1/047 , B01J19/0046 , B01J2219/00432 , B01J2219/00527 , B01J2219/00529 , B01J2219/00585 , B01J2219/0059 , B01J2219/00596 , B01J2219/00605 , B01J2219/00608 , B01J2219/0061 , B01J2219/00612 , B01J2219/00621 , B01J2219/00626 , B01J2219/00637 , B01J2219/00659 , B01J2219/00689 , B01J2219/00711 , B01J2219/00722 , B01J2219/00725 , B82Y30/00 , C07B2200/11 , C07H21/00 , C40B40/06 , C40B40/10 , C40B60/14 , Y02P20/55 , Y10S436/809
摘要： The present invention provides novel processes for the large scale preparation of arrays of polymer sequences wherein each array includes a plurality of different, positionally distinct polymer sequences having known monomer sequences. The methods of the invention combine high throughput process steps with high resolution photolithographic techniques in the manufacture of polymer arrays.
摘要翻译：本发明提供了用于大规模制备聚合物序列阵列的新方法，其中每个阵列包括具有已知单体序列的多个不同的位置不同的聚合物序列。本发明的方法将高通量处理步骤与高分辨率光刻技术结合在聚合物阵列的制造中。

3. 发明申请

WO2012141712A1 NORMALIZING CHROMOSOMES FOR THE DETERMINATION AND VERIFICATION OF COMMON AND RARE CHROMOSOMAL ANEUPLOIDIES 审中-公开
标题翻译：正常化染色体用于确定和验证常见和罕见的染色体异常
公开(公告)号：WO2012141712A1
公开(公告)日：2012-10-18
申请号：PCT/US2011/032554
申请日：2011-04-14
申请人： VERINATA HEALTH, INC. , RAVA, Richard, P.
发明人： RAVA, Richard, P.
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6809 , G06F19/18 , C12Q2535/122 , C12Q2537/16 , C12Q2539/113
摘要： The present invention provides a method capable of detecting single or multiple fetal chromosomal aneuploidies in a maternal sample comprising fetal and maternal nucleic acids, and verifying that the correct determination has been made. The method is applicable to determining copy number variations (CNV) of any sequence of interest in samples comprising mixtures of genomic nucleic acids derived from two different genomes, and which are known or are suspected to differ in the amount of one or more sequence of interest. The method is applicable at least to the practice of noninvasive prenatal diagnostics, and to the diagnosis and monitoring of conditions associated with a difference in sequence representation in healthy versus diseased individuals.
摘要翻译：本发明提供了一种能够检测包含胎儿和母体核酸的母体样品中的单胎或多胎胎儿染色体非整倍体的方法，并验证是否进行了正确的确定。该方法适用于确定样品中的任何感兴趣的序列的拷贝数变异（CNV），其包含衍生自两个不同基因组的基因组核酸的混合物，其已知或被怀疑在一个或多个感兴趣序列的量上不同。该方法至少适用于无创产前诊断的实践，以及与健康与患病个体中序列表现差异相关的病症的诊断和监测。

4. 发明申请

WO2005099394A3 METHODS AND DEVICES FOR MICROARRAY IMAGE ANALYSIS 审中-公开
公开(公告)号：WO2005099394A3
公开(公告)日：2005-10-27
申请号：PCT/US2005/011764
申请日：2005-04-06
申请人： AFFYMETRIX, INC. , RYU, Jekwan , RAVA, Richard, P. , FODOR, Stephen, P., A.
发明人： RYU, Jekwan , RAVA, Richard, P. , FODOR, Stephen, P., A.
IPC分类号： G01N21/64
摘要： The present invention provides methods and devices for high sensitivity and high speed microarray optical imaging. The methods include using patterned excitation to obtain a series of images and analyzing the images to resolve probe intensities which reflect the hybridization or binding between target and probes. Probe feature information and patterned excitation (structured illumination) information are incorporated into the analysis.

5. 发明申请

WO1990006718A1 A METHOD FOR LASER INDUCED FLUORESCENCE OF TISSUE 审中-公开
标题翻译：一种激光诱导组织荧光的方法
公开(公告)号：WO1990006718A1
公开(公告)日：1990-06-28
申请号：PCT/US1989005174
申请日：1989-11-17
申请人： MASSACHUSETTS INSTITUTE OF TECHNOLOGY , KITTRELL, Carter , COTHREN, Robert, M. , FELD, Michael, S. , BARAGA, Joseph, J. , AN, Kyungwon , RICHARDS-KORTUM, Rebecca , RAVA, Richard, P. , PARK, Young, D. , MEHTA, Anand , TARONI, Paola , TONG, Lucene , DASARI, Ramachandra, Rao
发明人： MASSACHUSETTS INSTITUTE OF TECHNOLOGY
IPC分类号： A61B05/00
CPC分类号： A61B5/0084 , A61B5/0071 , A61B5/0075 , A61B5/1459 , A61B18/245 , A61B2562/0238
摘要： A method for laser induced fluorescence of tissue in which laser radiation is used to illuminate and induce fluorescence in the tissue under study to determine the chemical composition or pathologic condition of tissue. The laser radiation and the retrieved fluorescing radiation can be conveyed through a catheter using an array of optical fiber. The fluorescence spectrum of the tissue can be displayed and analyzed to obtain information regarding the chemical composition and medical condition of the tissue inside the human body.
摘要翻译：激光诱导荧光组织的方法，其中使用激光辐射来照射和诱导正在研究的组织中的荧光以确定组织的化学组成或病理状况。激光辐射和所检索的荧光辐射可以使用光纤阵列通过导管输送。可以显示和分析组织的荧光光谱，以获得关于人体内组织的化学成分和医疗状况的信息。

6. 发明申请

WO2013015793A1 METHOD FOR DETERMINING THE PRESENCE OR ABSENCE OF DIFFERENT ANEUPLOIDIES IN A SAMPLE 审中-公开
标题翻译：确定样品中不同反应物存在或不存在的方法
公开(公告)号：WO2013015793A1
公开(公告)日：2013-01-31
申请号：PCT/US2011/045412
申请日：2011-07-26
申请人： VERINATA HEALTH, INC. , RAVA, Richard P. , COMSTOCK, David A. , RHEES, Brian K.
发明人： RAVA, Richard P. , COMSTOCK, David A. , RHEES, Brian K.
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6869 , C12Q1/6806 , C12Q1/6883 , C12Q2545/101 , C12Q2535/122 , C12Q2531/113
摘要： ABSTRACT OF THE DISCLOSURE The invention provides a method for determining copy number variations (CNV) of a sequence of interest in a test sample that comprises a mixture of nucleic acids that are known or are suspected to differ in the amount of one or more sequence of interest. The method comprises a statistical approach that accounts for accrued variability stemming from process-related, interchromosomal and inter-sequencing variability. The method is applicable to determining CNV of any fetal aneuploidy, and CNVs known or suspected to be associated with a variety of medical conditions. CNV that can be determined according to the present method include trisomies and monosomies of any one or more of chromosomes 1-22, X and Y, other chromosomal polysomies, and deletions and/or duplications of segments of any one or more of the chromosomes, which can be detected by sequencing only once the nucleic acids of a test sample. Any aneuploidy can be determined from sequencing information that is obtained by sequencing only once the nucleic acids of a test sample.
摘要翻译：发明内容本发明提供了一种确定测试样品中感兴趣的序列的拷贝数变异（CNV）的方法，该方法包括已知或怀疑在一个或多个序列的量中不同的核酸的混合物利益。该方法包括统计方法，其考虑了由过程相关的染色体间和序列间变异性引起的应变变异性。该方法适用于确定任何胎儿非整倍性的CNV，以及已知或怀疑与各种医学状况相关的CNV。可以根据本方法确定的CNV包括染色体1-22，X和Y中的任何一个或多个的三体和单体，其他染色体多糖体，以及任何一个或多个染色体的区段的缺失和/或重复，其可以通过仅测试一次测试样品的核酸来检测。任何非整倍体都可以从通过测序一次核酸测试获得的测序信息来确定。

7. 发明申请

WO2004055495A3 CHIP-IN-A-WELL SCANNING 审中-公开
标题翻译：芯片在一个良好的扫描
公开(公告)号：WO2004055495A3
公开(公告)日：2005-11-10
申请号：PCT/US0339763
申请日：2003-12-12
申请人： AFFYMETRIX INC , YAMAMOTO MELVIN , FODOR STEPHEN P A , RAVA RICHARD P
发明人： YAMAMOTO MELVIN , FODOR STEPHEN P A , RAVA RICHARD P
IPC分类号： B01L3/00 , C12Q1/68 , G01N33/53
CPC分类号： B01L3/5085 , B01L2300/0636 , B01L2300/0829 , C12Q1/6837 , C12Q2537/143
摘要： In one embodiment of the invention, methods and apparatus for packaging microarray (202) suspended in a well (204) of a well plate are provided. In another embodiment of the invention, the microarray can be successfully scanned with its target surface up or down.
摘要翻译：在本发明的一个实施例中，提供了悬挂在井板的井（204）中的微阵列（202）的包装方法和装置。在本发明的另一个实施方案中，微阵列可以被成功扫描其目标表面上或下。

8. 发明申请

WO2004055495A2 CHIP-IN-A-WELL SCANNING 审中-公开
标题翻译：芯片在一个良好的扫描
公开(公告)号：WO2004055495A2
公开(公告)日：2004-07-01
申请号：PCT/US2003/039763
申请日：2003-12-12
申请人： AFFYMETRIX, INC. , YAMAMOTO, Melvin , FODOR, Stephen, P., A. , RAVA, Richard, P.
发明人： YAMAMOTO, Melvin , FODOR, Stephen, P., A. , RAVA, Richard, P.
IPC分类号： G01N
CPC分类号： B01L3/5085 , B01L2300/0636 , B01L2300/0829 , C12Q1/6837 , C12Q2537/143
摘要： In one embodiment of the invention, methods and apparatus for packaging microarray suspended in a well of a well plate are provided. In another embodiment of the invention, the microarray can be successfully scanned with its target surface up or down.
摘要翻译：在本发明的一个实施方案中，提供了用于包装悬浮在孔板的孔中的微阵列的方法和装置。在本发明的另一个实施方案中，微阵列可以被成功扫描其目标表面向上或向下。

9. 发明申请

WO1997002357A1 INTEGRATED NUCLEIC ACID DIAGNOSTIC DEVICE 审中-公开
标题翻译：一体化核酸诊断装置
公开(公告)号：WO1997002357A1
公开(公告)日：1997-01-23
申请号：PCT/US1996011147
申请日：1996-06-27
申请人： AFFYMETRIX, INC. , ANDERSON, Rolfe, C. , LIPSHUTZ, Robert, J. , RAVA, Richard, P. , FODOR, Stephen, P., A.
发明人： AFFYMETRIX, INC.
IPC分类号： C12P19/34
CPC分类号： B01F15/0201 , B01F11/0071 , B01F11/0266 , B01F13/005 , B01F13/0059 , B01F13/08 , B01F15/0238 , B01F2215/0037 , B01F2215/0073 , B01L3/5027 , B01L3/502715 , B01L3/502723 , B01L3/50273 , B01L3/502738 , B01L3/502746 , B01L3/502753 , B01L3/502784 , B01L7/52 , B01L9/527 , B01L2200/0621 , B01L2200/0684 , B01L2200/10 , B01L2300/087 , B01L2300/0883 , B01L2300/16 , B01L2400/0415 , B01L2400/0421 , B01L2400/0487 , B01L2400/049 , B01L2400/084 , B01L2400/086 , G01N35/1095 , G01N2035/00158 , Y10T436/11 , Y10T436/118339 , Y10T436/25 , Y10T436/25375 , Y10T436/2575
摘要： The present invention provides a miniaturized integrated nucleic acid diagnostic device and system (522). The device (522) of the invention is generally capable of performing one or more sample acquisition and preparation operations, in combination with one or more sample analysis operations. For example, the device (522) can integrate several or all of the operations involved in sample acquisition and storage, sample preparation and sample analysis, within a single integrated unit (522). The device (522) is useful in a variety of applications, and most notably, nucleic acid based diagnostic applications and de novo sequencing applications.
摘要翻译：本发明提供一种小型化的综合核酸诊断装置和系统（522）。本发明的装置（522）通常能够结合一个或多个样本分析操作执行一个或多个样本采集和准备操作。例如，设备（522）可以集成在单个集成单元（522）内的样本采集和存储，样品制备和样品分析中涉及的几个或全部操作。该装置（522）可用于各种应用，尤其是基于核酸的诊断应用和从头测序应用。

10. 发明申请

WO1992015008A1 SYSTEMS AND METHODS OF MOLECULAR SPECTROSCOPY TO PROVIDE FOR THE DIAGNOSIS OF TISSUE 审中-公开
标题翻译：分子谱分析系统和方法提供组织诊断
公开(公告)号：WO1992015008A1
公开(公告)日：1992-09-03
申请号：PCT/US1992000420
申请日：1992-01-17
申请人： MASSACHUSETTS INSTITUTE OF TECHNOLOGY , RAVA, Richard, P. , BARAGA, Joseph, J. , FELD, Michael, S.
发明人： MASSACHUSETTS INSTITUTE OF TECHNOLOGY
IPC分类号： G01N21/65
CPC分类号： A61B5/0086 , A61B5/0071 , A61B5/0075 , A61B5/7203 , A61B5/7257 , A61B2562/0242 , G01N21/65 , G01N2021/656
摘要： Systems and methods for spectroscopic diagnosis and treatment are employed which utilize molecular spectroscopy to accurately diagnose the condition of tissue. Infrared Raman spectroscopy and infrared attenuated total reflectance measurements are performed utilizing a laser radiation source and a Fourier transform spectrometer. Information acquired and analyzed in accordance with the invention provides accurate details of biochemical composition and pathologic condition.
摘要翻译：使用光谱诊断和治疗的系统和方法，其利用分子光谱来准确地诊断组织的状况。使用激光辐射源和傅里叶变换光谱仪进行红外拉曼光谱和红外衰减全反射率测量。根据本发明获得和分析的信息提供了生物化学成分和病理状况的准确细节。

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