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公开(公告)号：EP2971126A4
公开(公告)日：2016-10-26
申请号：EP14764129
申请日：2014-03-17
CPC分类号： C12Q1/68 , C12Q1/6883 , C12Q2600/156 , G06F19/22
摘要： Techniques are provided for determining inheritance of maternal and paternal haplotypes in preganncies with multiple fetuses. Maternal inheritance can be determined at loci where the mother is heterozygous and the paternally inherited alleles are known (e.g., the father is homozygous). Two types of loci may be used, where one type has the paternal allele appear on a first maternal haplotype, and another type has the paternal allele appear on a second maternal haplotype. Paternal inheritance can be determined from loci where the father is heterozygous and the maother is homozygous. Amounts of different alleles at each locus can be measured. A comparison of the amounts (e.g., using a fractional concentration of each allele and cutoffs) can be used to determine the haplotype inheritance. A haplotype can be linked to a condition of interest.
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2.发明公开MATERNAL PLASMA TRANSCRIPTOME ANALYSIS BY MASSIVELY PARALLEL RNA SEQUENCING 有权转移大肠杆菌大肠杆菌RNA-SEQUENZIERUNG
公开(公告)号：EP2961851A4
公开(公告)日：2016-11-16
申请号：EP14757525
申请日：2014-02-28
CPC分类号： C12Q1/6883 , C12Q2600/156 , G06F19/22
摘要： Methods are provided for diagnosing pregnancy-associated disorders, determining allelic ratios, determining maternal or fetal contributions to circulating transcripts, and/or identifying maternal or fetal markers using a sample from a pregnant female subject. Also provided is use of a gene for diagnosing a pregnancy-associated disorder in a pregnant female subject.
摘要翻译： 提供了用于诊断妊娠相关疾病，确定等位基因比例，确定循环转录物的母体或胎儿贡献，和/或使用来自怀孕女性受试者的样品鉴定母体或胎儿标记的方法。 还提供了用于诊断怀孕女性受试者的怀孕相关疾病的基因的使用。
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3.发明公开SIZE-BASED ANALYSIS OF FETAL DNA FRACTION IN MATERNAL PLASMA 有权MUTTERPLASMA的GRÖSSENBASIERTEANALYZE VONFÖTALERDNA-FRAKTION
公开(公告)号：EP2823062A4
公开(公告)日：2015-10-07
申请号：EP13757943
申请日：2013-03-08
发明人： LO YUK MING DENNIS , CHAN KWAN CHEE , ZHENG WENLI , JIANG PEIYONG , LIAO JIAWEI , CHIU WAI KWUN ROSSA
IPC分类号： C12Q1/68
CPC分类号： G06F19/22 , C12Q1/6809 , C12Q1/6816 , C12Q1/6827 , C12Q1/6869 , G06F19/18 , G06F19/3431 , G06F19/345 , G16H50/20 , G16H50/30 , C12Q2535/122 , C12Q2537/16 , C12Q2537/165 , C12Q2539/107 , C12Q2525/204
摘要： A method of analyzing a biological sample of an organism, the biological sample including DNA originating from normal cells and potentially from cells associated with cancer, wherein at least some of the DNA is cell-free in the biological sample, the method comprising: for each size of a plurality of sizes: measuring an amount of a first set of DNA fragments from the biological sample corresponding to the size; calculating a first value of a first parameter based on the amounts of DNA fragments at multiple sizes, the first parameter providing a statistical measure of a size profile of DNA fragments in the biological sample; comparing the first value to a reference value; and determining a classification of a level of cancer in the organism based on the comparison.
摘要翻译： 一种分析生物体的生物样品的方法，所述生物样品包括源自正常细胞并且潜在地来自与癌症相关的细胞的DNA，其中所述DNA中的至少一些在生物样品中是无细胞的，所述方法包括： 多个尺寸的尺寸：测量来自对应于尺寸的生物样品的第一组DNA片段的量; 基于多个尺寸的DNA片段的量计算第一参数的第一值，第一参数提供生物样品中DNA片段的大小分布的统计量度; 将第一个值与参考值进行比较; 并且基于比较来确定生物体中癌症水平的分类。
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4.发明公开METHODS FOR ANALYZING MASSIVELY PARALLEL SEQUENCING DATA FOR NONINVASIVE PRENATAL DIAGNOSIS 审中-公开非侵入性诊断性分析的固化并行序列数据分析方法
公开(公告)号：EP2825991A4
公开(公告)日：2015-09-02
申请号：EP13760635
申请日：2013-03-13
发明人： CHEN ZHANG , LO YUK MING DENNIS , CHAN KWAN CHEE , ZHENG WENLI , SUN HAO , CHIU WAI KWUN ROSSA
摘要： This invention provides several ways of managing GC bias that occurs during seequencing and analysis of genomic DNA. Maternal plasma can be used as a source of fetal DNA for analysis. DNA segments or tags obtained from the plasma can be aligned with a chromosomal region of interest and with an artificial reference chromosome assembled from regions of the genome having matching GC content. This technology can be used, for example, to detect and evaluate aneuploidy and other chromosomal abnormalities.
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公开(公告)号：EP2646579A4
公开(公告)日：2014-06-04
申请号：EP11845367
申请日：2011-11-30
CPC分类号： G06F19/22 , C12Q1/6809 , C12Q1/6869 , C12Q1/6886 , C12Q2600/156 , C12Q2600/172 , G06F19/18 , C12Q2535/122 , C12Q2537/165 , C12Q2545/114
摘要： Progress of chromosomal aberrations in an organism is determined using biological samples including nucleic acid molecules originating from normal cells and potentially from cells associated with a disease, at least some of the nucleic acid molecules being cell-free. Non-overlapping chromosomal regions of a reference genome of the organism are determined. At a plurality of times: for each of plural nucleic acid molecules, a location thereof in the reference genome is determined; and for each chromosomal region: a respective group of nucleic acid molecules is identified as being therefrom based on the identified locations; a respective value defining a property of the nucleic acid molecules is calculated and compared to a reference value to determine a classification of whether the chromosomal region exhibits a deletion or an amplification. The classifications at the plurality of times are used to determine the progress of the chromosomal aberrations in the organism.
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7.发明公开NONINVASIVE PRENATAL DIAGNOSIS OF FETAL TRISOMY BY ALLELIC RATIO ANALYSIS USING TARGETED MASSIVELY PARALLEL SEQUENCING 有权利用靶向大规模并行测序法进行同种异体分析的无创性初步诊断
公开(公告)号：EP2834376A4
公开(公告)日：2015-11-18
申请号：EP13773129
申请日：2013-04-08
CPC分类号： C12Q1/6883 , C12Q1/6827 , C12Q2600/156 , C12Q2600/158 , G06F19/20 , G06F19/22 , C12Q2537/16
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公开(公告)号：EP3169813A4
公开(公告)日：2018-01-03
申请号：EP15821804
申请日：2015-07-20
IPC分类号： C12Q1/68
CPC分类号： G06F19/18 , C12Q1/6809 , G06F19/22 , C12Q2523/125 , C12Q2535/122 , C12Q2537/165
摘要： The contributions of different tissues to a DNA mixture are determined using methylation levels at particular genomic sites. Tissue-specific methylation levels of M tissue types can be used to deconvolve mixture methylation levels measured in the DNA mixture, to determine fraction contributions of each of the M tissue types. Various types of genomic sites can be chosen to have particular properties across tissue types and across individuals, so as to provide increased accuracy in determining contributions of the various tissue types. The fractional contributions can be used to detect abnormal contributions of a particular tissue, indicating a disease state for the tissue. A differential in fractional contributions for different sizes of DNA fragments can also be used to identify a diseased state of a particular tissue. A sequence imbalance for a particular chromosomal region can be detected in a particular tissue, e.g., identifying a location of a tumor.
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公开(公告)号：EP2661507A4
公开(公告)日：2015-12-23
申请号：EP12732095
申请日：2012-01-05
IPC分类号： G06F19/00
CPC分类号： G06F19/18 , C12Q1/6883 , C12Q2600/156 , C12Q2600/158
摘要： Methods, apparatuses, and system are provided for analyzing a maternal sample to determine whether a male fetus of a pregnant female has inherited an X-linked mutation from the mother. A percentage of fetal DNA in the sample is obtained, and cutoff values for the two possibilities (fetus inherits mutant or normal allele) are determined. A proportion of mutant alleles relative to a normal allele on the X-chromosome can then be compared to the cutoff values to make a classification of which allele is inherited. Alternatively, a number of alleles from a target region on the X-chromosome can be compared to a number of alleles from a reference region on the X-chromosome to identify a deletion or amplification. The fetal DNA percentage can be computed by counting reactions with a fetal-specific allele, and correcting the number to account for a statistical distribution among the reactions.
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公开(公告)号：EP2678451A4
公开(公告)日：2014-10-22
申请号：EP12834099
申请日：2012-02-24
IPC分类号： C12Q1/68
CPC分类号： G06F19/18 , C12Q1/6881 , C12Q2600/154 , C12Q2600/156 , C12Q2600/172 , G06F19/24
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