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公开(公告)号：US07718367B2
公开(公告)日：2010-05-18
申请号：US11378598
申请日：2006-03-17
CPC分类号： C12Q1/6883 , C12Q2600/156 , C12Q2600/158 , C12Q2600/16
摘要： Methods and kits are provided for diagnosing, monitoring, or predicting preeclaimpsia in a pregnant woman, trisomy 18 and trisomy 21 in a fetus, as well as for detecting pregnancy in a woman, by quantitatively measuring in the maternal blood the amount of one or more RNA species derived from a set of genetic loci and comparing the amount of the RNA species with a standard control.
摘要翻译： 提供了方法和试剂盒，用于诊断，监测或预测孕妇，18岁的三体性和胎儿中的21三体，以及通过在母亲血液中定量测量一个或多个胎儿的数量，在胎儿中检测怀孕。 衍生自一组遗传基因座的RNA物种，并将RNA物质的量与标准对照进行比较。
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52.发明申请Diagnosing Fetal Chromosomal Aneuploidy Using Genomic Sequencing With Enrichment 审中-公开使用富集基因组测序诊断胎儿染色体非整倍体公开(公告)号：US20100112590A1
公开(公告)日：2010-05-06
申请号：US12614350
申请日：2009-11-06
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6886 , C12Q1/6809 , C12Q1/6827 , C12Q1/6874 , C12Q1/6883 , C12Q2600/156 , G16B20/00 , G16B30/00 , C12Q2537/16
摘要： Embodiments of this invention provide methods, systems, and apparatus for determining whether a fetal chromosomal aneuploidy exists from a biological sample obtained from a pregnant female. Nucleic acid molecules of the biological sample are sequenced, such that a fraction of the genome is sequenced. Respective amounts of a clinically-relevant chromosome and of background chromosomes are determined from results of the sequencing. The determination of the relative amounts may count sequences of only certain length. A parameter derived from these amounts (e.g. a ratio) is compared to one or more cutoff values, thereby determining a classification of whether a fetal chromosomal aneuploidy exists. Prior to sequencing, the biological sample may be enriched for DNA fragments of a particular sizes.
摘要翻译： 本发明的实施方案提供了用于确定从怀孕女性获得的生物样品中是否存在胎儿染色体非整倍性的方法，系统和装置。 对生物样品的核酸分子进行测序，使得对基因组的一部分进行测序。 根据测序结果确定相应量的临床相关染色体和背景染色体。 相对量的确定可以计算一定长度的序列。 将来自这些量（例如比例）的参数与一个或多个截断值进行比较，从而确定是否存在胎儿染色体非整倍性的分类。 在测序之前，生物样品可以富集特定大小的DNA片段。
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公开(公告)号：US20090053719A1
公开(公告)日：2009-02-26
申请号：US12184100
申请日：2008-07-31
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6851 , C12Q2527/107 , C12Q2563/159 , C12Q2565/629
摘要： The present invention provides a method for analyzing nucleic acids for their lengths and relative abundance in a sample, based on digital amplification of individual template molecules. This invention has many applications, including those in noninvasive prenatal diagnosis, transplantation monitoring, and the detection and monitoring of cancers and virus-associated diseases.
摘要翻译： 本发明提供了一种基于个体模板分子的数字扩增来分析样品中核酸长度和相对丰度的方法。 本发明有许多应用，包括无创产前诊断，移植监测以及癌症和病毒相关疾病的检测和监测。
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54.发明申请DIAGNOSING FETAL CHROMOSOMAL ANEUPLOIDY USING MASSIVELY PARALLEL GENOMIC SEQUENCING 审中-公开使用大规模并行基因测序诊断子宫颈染色体异常公开(公告)号：US20090029377A1
公开(公告)日：2009-01-29
申请号：US12178181
申请日：2008-07-23
摘要： Embodiments of this invention provide methods, systems, and apparatus for determining whether a fetal chromosomal aneuploidy exists from a biological sample obtained from a pregnant female. Nucleic acid molecules of the biological sample are sequenced, such that a fraction of the genome is sequenced. Respective amounts of a clinically-relevant chromosome and of background chromosomes are determined from results of the sequencing. A parameter derived from these amounts (e.g. a ratio) is compared to one or more cutoff values, thereby determining a classification of whether a fetal chromosomal aneuploidy exists.
摘要翻译： 本发明的实施方案提供了用于确定从怀孕女性获得的生物样品中是否存在胎儿染色体非整倍性的方法，系统和装置。 对生物样品的核酸分子进行测序，使得对基因组的一部分进行测序。 根据测序结果确定相应量的临床相关染色体和背景染色体。 将来自这些量（例如比例）的参数与一个或多个截断值进行比较，从而确定是否存在胎儿染色体非整倍性的分类。
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公开(公告)号：US07022478B2
公开(公告)日：2006-04-04
申请号：US10194523
申请日：2002-07-11
CPC分类号： C12Q1/6883 , C12Q1/6806 , C12Q2600/158
摘要： This invention relates to the use of a blood sample from a patient for evaluating stroke or cardiac ischemia in the patient.
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公开(公告)号：US12054780B2
公开(公告)日：2024-08-06
申请号：US13070240
申请日：2011-03-23
IPC分类号： C12Q1/6886 , C12Q1/6809 , C12Q1/6827 , C12Q1/6874 , C12Q1/6883 , G16B20/00 , G16B20/10 , G16B20/20 , G16B30/00 , G16B30/10
CPC分类号： C12Q1/6886 , C12Q1/6809 , C12Q1/6827 , C12Q1/6874 , C12Q1/6883 , G16B20/00 , G16B20/10 , G16B20/20 , G16B30/00 , G16B30/10 , C12Q2600/156 , C12Q1/6827 , C12Q2537/16
摘要： Embodiments of this invention provide methods, systems, and apparatus for determining whether a fetal chromosomal aneuploidy exists from a biological sample obtained from a pregnant female. Nucleic acid molecules of the biological sample are sequenced, such that a fraction of the genome is sequenced. Respective amounts of a clinically-relevant chromosome and of background chromosomes are determined from results of the sequencing. The determination of the relative amounts may count sequences of only certain length. A parameter derived from these amounts (e.g. a ratio) is compared to one or more cutoff values, thereby determining a classification of whether a fetal chromosomal aneuploidy exists. Prior to sequencing, the biological sample may be enriched for DNA fragments of a particular sizes.
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公开(公告)号：US12018329B2
公开(公告)日：2024-06-25
申请号：US13070275
申请日：2011-03-23
IPC分类号： G01N33/50 , C12Q1/6809 , C12Q1/6827 , C12Q1/6874 , C12Q1/6883 , C12Q1/6886 , G16B20/00 , G16B20/10 , G16B20/20 , G16B30/00 , G16B30/10
CPC分类号： C12Q1/6886 , C12Q1/6809 , C12Q1/6827 , C12Q1/6874 , C12Q1/6883 , G16B20/00 , G16B20/10 , G16B30/00 , G16B30/10 , C12Q2600/156 , C12Q1/6827 , C12Q2537/16
摘要： Embodiments of this invention provide methods, systems, and apparatus for determining whether a fetal chromosomal aneuploidy exists from a biological sample obtained from a pregnant female. Nucleic acid molecules of the biological sample are sequenced, such that a fraction of the genome is sequenced. Respective amounts of a clinically-relevant chromosome and of background chromosomes are determined from results of the sequencing. The determination of the relative amounts may count sequences of only certain length. A parameter derived from these amounts (e.g. a ratio) is compared to one or more cutoff values, thereby determining a classification of whether a fetal chromosomal aneuploidy exists. Prior to sequencing, the biological sample may be enriched for DNA fragments of a particular sizes.
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公开(公告)号：US09051614B2
公开(公告)日：2015-06-09
申请号：US12879600
申请日：2010-09-10
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , C12Q2600/118 , C12Q2600/156 , C12Q2600/158 , Y10T436/143333
摘要： The present invention provides a new method for detecting or monitoring a liver disease in a subject that has no indication of any liver pathologies, by measuring the amount of concentration of albumin mRNA in an acellular blood sample from the subject, and then comparing the amount or concentration of albumin mRNA with a standard control.
摘要翻译： 本发明提供了一种通过测量来自受试者的无细胞血液样品中的白蛋白mRNA浓度的量来检测或监测受试者中没有任何肝脏病征的肝脏疾病的新方法，然后比较 用标准对照的白蛋白mRNA浓度。
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公开(公告)号：US20140329696A1
公开(公告)日：2014-11-06
申请号：US14335477
申请日：2014-07-18
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , C12Q1/6827 , C12Q1/6888 , C12Q2600/112 , C12Q2600/154 , C12Q2600/156 , G01N2800/387 , G06F19/18 , G06F19/22 , C12Q2521/331 , C12Q2537/16
摘要： Embodiments of this invention provide methods, systems, and apparatus for determining whether a fetal chromosomal aneuploidy exists from a biological sample obtained from a pregnant female. Nucleic acid molecules of the biological sample are sequenced, such that a fraction of the genome is sequenced. Respective amounts of a clinically-relevant chromosome and of background chromosomes are determined from results of the sequencing. A parameter derived from these amounts (e.g. a ratio) is compared to one or more cutoff values, thereby determining a classification of whether a fetal chromosomal aneuploidy exists.
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公开(公告)号：US08722334B2
公开(公告)日：2014-05-13
申请号：US12914082
申请日：2010-10-28
CPC分类号： C12Q1/6851 , C12Q2527/107 , C12Q2563/159 , C12Q2565/629
摘要： The present invention provides a method for analyzing nucleic acids for their lengths and relative abundance in a sample, based on digital amplification of individual template molecules. This invention has many applications, including those in noninvasive prenatal diagnosis, transplantation monitoring, and the detection and monitoring of cancers and virus-associated diseases.
摘要翻译： 本发明提供了一种基于个体模板分子的数字扩增来分析样品中核酸长度和相对丰度的方法。 本发明有许多应用，包括无创产前诊断，移植监测以及癌症和病毒相关疾病的检测和监测。
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