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1.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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2.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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5.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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6.发明公开MUTATIONAL ANALYSIS OF PLASMA DNA FOR CANCER DETECTION 审中-公开MUTATIONSANALYSE VON PLASMA-DNSFÜRDEN NACHWEIS VON KREBS
公开(公告)号：EP2864501A4
公开(公告)日：2016-03-16
申请号：EP13807105
申请日：2013-06-14
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6886 , C12Q1/6827 , C12Q2600/112 , C12Q2600/156 , C12Q2535/122 , C12Q2537/16 , C12Q2539/107
摘要： A frequency of somatic mutations in a biological sample (e.g., plasma or serum) of a subject undergoing screening or monitoring for cancer, can be compared with that in the constitutional DNA of the same subject. A parameter can derived from these frequencies and used to determine a classification of a level of cancer. False positives can be filtered out by requiring any variant locus to have at least a specified number of variant sequence reads (tags), thereby providing a more accurate parameter. The relative frequencies for different variant loci can be analyzed to determine a level of heterogeneity of tumors in a patient.
摘要翻译： 可以将经历筛选或监测癌症的受试者的生物样品（例如血浆或血清）中的体细胞突变的频率与同一受试者的结构DNA中的体细胞突变的频率进行比较。 一个参数可以从这些频率导出，用于确定癌症水平的分类。 可以通过要求任何变体轨迹至少具有指定数量的变体序列读取（标签）来过滤掉假阳性，从而提供更准确的参数。 可以分析不同变体基因座的相对频率，以确定患者肿瘤异质性水平。
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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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9.发明公开METHODS AND KITS FOR SELECTIVELY AMPLIFYING, DETECTING OR QUANTIFYING TARGET DNA WITH SPECIFIC END SEQUENCES 有权用于选择性放大方法和试剂盒，检测或靶DNA具有特定末端序列量化
公开(公告)号：EP2195449A4
公开(公告)日：2011-08-17
申请号：EP08783612
申请日：2008-08-05
IPC分类号： C12Q1/68
CPC分类号： C12Q1/686 , C12Q2525/301 , C12Q2521/331
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