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1. 发明申请

US20120149582A1 METHOD FOR DETERMINING COPY NUMBER VARIATIONS 审中-公开
公开(公告)号：US20120149582A1
公开(公告)日：2012-06-14
申请号：US13364809
申请日：2012-02-02
申请人： Richard P. Rava , David A. Comstock , Brian K. Rhees
发明人： Richard P. Rava , David A. Comstock , Brian K. Rhees
IPC分类号： C40B20/00
CPC分类号： C12Q1/6806 , C12Q1/6809 , C12Q1/6869 , C12Q1/6883 , C12Q1/6886 , C12Q2600/106 , G16B30/00 , C12Q2545/101 , C12Q2535/122 , C12Q2531/113 , C12Q2537/16 , C12Q2537/165
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 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.

2. 发明申请

US20120149583A1 METHOD FOR DETERMINING COPY NUMBER VARIATIONS 审中-公开
标题翻译：确定复制数变化的方法
公开(公告)号：US20120149583A1
公开(公告)日：2012-06-14
申请号：US13365134
申请日：2012-02-02
申请人： Richard P. RAVA , David A. Comstock , Brian K. Rhees
发明人： Richard P. RAVA , David A. Comstock , Brian K. Rhees
IPC分类号： C40B20/00
CPC分类号： C12Q1/6806 , C12Q1/6809 , C12Q1/6869 , C12Q1/6883 , C12Q1/6886 , C12Q2600/106 , G16B30/00 , C12Q2545/101 , C12Q2535/122 , C12Q2531/113 , C12Q2537/16 , C12Q2537/165
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 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.
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，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。

3. 发明申请

US20120237928A1 METHOD FOR DETERMINING COPY NUMBER VARIATIONS 审中-公开
标题翻译：确定复制数变化的方法
公开(公告)号：US20120237928A1
公开(公告)日：2012-09-20
申请号：US13400028
申请日：2012-02-17
申请人： Richard P. RAVA , David A. Comstock , Brian K. Rhees
发明人： Richard P. RAVA , David A. Comstock , Brian K. Rhees
IPC分类号： G06F19/00 , C12Q1/68
CPC分类号： C12Q1/6806 , C12Q1/6809 , C12Q1/6869 , C12Q1/6883 , C12Q1/6886 , C12Q2600/106 , G16B30/00 , 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，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。

4. 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。

5. 发明授权

US09493828B2 Methods for determining fraction of fetal nucleic acids in maternal samples 有权
$Methods for determining fraction of fetal nucleic acids in maternal samples$
标题翻译：测定母体样品中胎儿核酸分数的方法
公开(公告)号：US09493828B2
公开(公告)日：2016-11-15
申请号：US13461582
申请日：2012-05-01
申请人： Richard P. Rava , Yue-Jen Chuu , Manjula Chinnappa , David A. Comstock , Gabrielle Heilek , Michael Hunkapiller
发明人： Richard P. Rava , Yue-Jen Chuu , Manjula Chinnappa , David A. Comstock , Gabrielle Heilek , Michael Hunkapiller
IPC分类号： C12Q1/68 , G06F19/22
CPC分类号： C12Q1/6883 , C12Q1/6827 , C12Q1/6869 , C12Q1/6886 , C12Q2537/143 , C12Q2600/106 , C12Q2600/156 , C12Q2600/16 , G06F19/22 , C12Q2565/125 , C12Q2535/122
摘要： The invention provides compositions and methods for determining the fraction of fetal nucleic acids in a maternal sample comprising a mixture of fetal and maternal nucleic acids. The fraction of fetal nucleic acids can be used in determining the presence or absence of fetal aneuploidy.
摘要翻译：本发明提供了用于确定包含胎儿和母体核酸混合物的母体样品中胎儿核酸分数的组合物和方法。胎儿核酸的分数可以用于确定胎儿非整倍体的存在或不存在。

6. 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。

7. 发明申请

US20110201507A1 SEQUENCING METHODS AND COMPOSITIONS FOR PRENATAL DIAGNOSES 有权
标题翻译：用于初步诊断的顺序方法和组合
公开(公告)号：US20110201507A1
公开(公告)日：2011-08-18
申请号：US12958353
申请日：2010-12-01
申请人： Richard P. Rava , Manjula Chinnappa , David A. Comstock , Gabrielle Heilek , Brian Kent Rhees
发明人： Richard P. Rava , Manjula Chinnappa , David A. Comstock , Gabrielle Heilek , Brian Kent Rhees
IPC分类号： C40B30/00 , C40B60/08 , G06F19/00
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 methods for determining aneuploidy and/or fetal fraction in maternal samples comprising fetal and maternal cfDNA by massively parallel sequencing. The method comprises a novel protocol for preparing sequencing libraries that unexpectedly improves the quality of library DNA while expediting the process of analysis of samples for prenatal diagnoses.
摘要翻译：本发明提供了通过大规模平行测序来测定母体样品中包括胎儿和母体cfDNA的非整倍体和/或胎儿部分的方法。该方法包括用于制备测序文库的新方案，其意外地提高文库DNA的质量，同时加速用于产前诊断的样品分析过程。

8. 发明授权

US09657342B2 Sequencing methods for prenatal diagnoses 有权
公开(公告)号：US09657342B2
公开(公告)日：2017-05-23
申请号：US12958353
申请日：2010-12-01
申请人： Richard P. Rava , Manjula Chinnappa , David A. Comstock , Gabrielle Heilek , Brian Kent Rhees
发明人： Richard P. Rava , Manjula Chinnappa , David A. Comstock , Gabrielle Heilek , Brian Kent Rhees
IPC分类号： C12Q1/68
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 methods for determining aneuploidy and/or fetal fraction in maternal samples comprising fetal and maternal cfDNA by massively parallel sequencing. The method comprises a novel protocol for preparing sequencing libraries that unexpectedly improves the quality of library DNA while expediting the process of analysis of samples for prenatal diagnoses.

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