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1.发明申请公开(公告)号：US20120010085A1
公开(公告)日：2012-01-12
申请号：US12958347
申请日：2010-12-01
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
CPC分类号： C12Q1/6883 , C12Q1/6827 , C12Q1/6869 , C12Q1/6886 , C12Q2537/143 , C12Q2600/106 , C12Q2600/156 , C12Q2600/16 , G16B30/00 , 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。
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公开(公告)号：US20120237928A1
公开(公告)日：2012-09-20
申请号：US13400028
申请日：2012-02-17
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。
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公开(公告)号：US20120100548A1
公开(公告)日：2012-04-26
申请号：US13191366
申请日：2011-07-26
IPC分类号： C12Q1/68
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. 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： 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。 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。
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公开(公告)号：US20120149583A1
公开(公告)日：2012-06-14
申请号：US13365134
申请日：2012-02-02
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。
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5.发明申请NORMALIZING CHROMOSOMES FOR THE DETERMINATION AND VERIFICATION OF COMMON AND RARE CHROMOSOMAL ANEUPLOIDIES 有权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：US20120264115A1
公开(公告)日：2012-10-18
申请号：US13087842
申请日：2011-04-15
申请人： Richard P. RAVA
发明人： Richard P. RAVA
IPC分类号： C12Q1/68
CPC分类号： G06F19/22 , C12Q1/6883 , C12Q2600/156
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个或多个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，并且已知或怀疑其不同于一个或多个感兴趣序列的量 。 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。
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