Circulating epstein-barr virus DNA in the serum of patients with gastric carcinoma
    31.
    发明授权
    Circulating epstein-barr virus DNA in the serum of patients with gastric carcinoma 有权
    在胃癌患者血清中循环epstein-barr病毒DNA

    公开(公告)号:US06753137B2

    公开(公告)日:2004-06-22

    申请号:US10057579

    申请日:2002-01-25

    IPC分类号: C12Q170

    CPC分类号: C12Q1/6886 C12Q1/705

    摘要: The present invention features methods for diagnosing, detecting, monitoring and determining the prognosis of gastric cancer, non-head and neck and lymphoid malignancies, and gastritis in a patient by detecting or measuring EBV DNA present in the serum or plasma of the patient. The present invention also features diagnostic kits comprising suitable reagents for detecting EBV DNA in the serum or plasma of a patient.

    摘要翻译: 本发明的特征在于通过检测或测量患者的血清或血浆中存在的EBV DNA来诊断,检测,监测和确定患者的胃癌,非头颈部和淋巴恶性肿瘤以及胃炎的预后的方法。 本发明还具有包含用于检测患者的血清或血浆中的EBV DNA的合适试剂的诊断试剂盒。

    Size-based genomic analysis
    32.
    发明授权
    Size-based genomic analysis 有权
    基于大小的基因组分析

    公开(公告)号:US08620593B2

    公开(公告)日:2013-12-31

    申请号:US12940992

    申请日:2010-11-05

    IPC分类号: G06F19/00 G11C17/00 C12Q1/68

    摘要: Systems, methods, and apparatuses for performing a prenatal diagnosis of a sequence imbalance are provided. A shift (e.g. to a smaller size distribution) can signify an imbalance in certain circumstances. For example, a size distribution of fragments of nucleic acids from an at-risk chromosome can be used to determine a fetal chromosomal aneuploidy. A size ranking of different chromosomes can be used to determine changes of a rank of an at-risk chromosome from an expected ranking. Also, a difference between a statistical size value for one chromosome can be compared to a statistical size value of another chromosome to identify a significant shift in size. A genotype and haplotype of the fetus may also be determined using a size distribution to determine whether a sequence imbalance occurs in a maternal sample relative to a genotypes or haplotype of the mother, thereby providing a genotype or haplotype of the fetus.

    摘要翻译: 提供了用于执行序列不平衡的产前诊断的系统,方法和装置。 在某些情况下,偏移(例如,到更小的分布)可以表示不平衡。 例如,可以使用来自高危染色体的核酸片段的大小分布来确定胎儿染色体非整倍体。 可以使用不同染色体的大小排序来从预期排名中确定危险染色体的等级的变化。 而且,一个染色体的统计大小值之间的差异可以与另一个染色体的统计大小值进行比较,以确定大小的显着变化。 也可以使用大小分布来确定胎儿的基因型和单倍型,以确定相对于母体的基因型或单倍型,母体样品中是否发生序列不平衡,从而提供胎儿的基因型或单倍型。

    Fetal genomic analysis from a maternal biological sample
    33.
    发明授权
    Fetal genomic analysis from a maternal biological sample 有权
    母体生物样品的胎儿基因组分析

    公开(公告)号:US08467976B2

    公开(公告)日:2013-06-18

    申请号:US12940993

    申请日:2010-11-05

    IPC分类号: G06F19/00 C12Q1/68 G11C17/00

    摘要: Systems, methods, and apparatus for determining at least a portion of fetal genome are provided. DNA fragments from a maternal sample (maternal and fetal DNA) can be analyzed to identify alleles at certain loci. The amounts of DNA fragments of the respective alleles at these loci can be analyzed together to determine relative amounts of the haplotypes for these loci and determine which haplotypes have been inherited from the parental genomes. Loci where the parents are a specific combination of homozygous and heterozygous can be analyzed to determine regions of the fetal genome. Reference haplotypes common in the population can be used along with the analysis of the DNA fragments of the maternal sample to determine the maternal and paternal genomes. Determination of mutations, a fractional fetal DNA concentration in a maternal sample, and a proportion of coverage of a sequencing of the maternal sample can also be provided.

    摘要翻译: 提供了用于确定胎儿基因组的至少一部分的系统,方法和装置。 可以分析来自母体样品(母体和胎儿DNA)的DNA片段,以鉴定某些位点处的等位基因。 可以一起分析在这些位点处各个等位基因的DNA片段的量,以确定这些基因座的单倍型的相对量,并确定哪些单元型已经从亲代基因组遗传。 可以分析父母是纯合子和杂合子的特异性组合的位点,以确定胎儿基因组的区域。 可以在群体中常见的参考单倍型与母体样品的DNA片段的分析一起使用,以确定母体和父系的基因组。 也可以提供母体样品中突变的确定,胎儿DNA分数的分数以及母体样品测序的覆盖率。

    MOLECULAR TESTING OF MULTIPLE PREGNANCIES
    34.
    发明申请
    MOLECULAR TESTING OF MULTIPLE PREGNANCIES 审中-公开
    多种孕妇的分子检测

    公开(公告)号:US20130059733A1

    公开(公告)日:2013-03-07

    申请号:US13405073

    申请日:2012-02-24

    摘要: Methods, systems, and apparatus are provided for determining zygosity of a multiple-fetus pregnancy using a biological sample taken from the mother. The fetal and maternal DNA in the sample (e.g. plasma) can be analyzed for a particular chromosomal region to identify genetic differences in the fetuses. For example, a normalized parameter for the measure of a primary or secondary allele can show variances for different chromosomal regions when fetuses are dizygotic. Such a variance can be determined relative to an expected value if the fetuses were genetically identical. Statistical methods are provided for analyzing the variation of the normalized parameters to determine fetal DNA concentration and the maternal-fetal mixed genotype at various loci. Parental genotype and haplotype information can also be used to identify inheritance of different parental haplotypes to indicate genetic differences among the fetuses.

    摘要翻译: 提供了方法,系统和装置,用于使用从母亲取得的生物样品来确定多胎胎儿怀孕的接合性。 可以分析样品中的胎儿和母体DNA(例如血浆)以获得特定的染色体区域,以鉴定胎儿中的遗传差异。 例如,当胎儿分娩时,用于测量初级或次级等位基因的归一化参数可以显示不同染色体区域的方差。 如果胎儿在遗传上相同,则可以相对于期望值确定这种变化。 提供统计方法用于分析标准化参数的变化,以确定胎儿DNA浓度和各种基因座的母体 - 胎儿混合基因型。 亲代基因型和单倍型信息也可用于鉴定不同亲代单倍型的遗传,以指示胎儿之间的遗传差异。

    SIZE-BASED GENOMIC ANALYSIS
    36.
    发明申请
    SIZE-BASED GENOMIC ANALYSIS 有权
    基于大小的基因分析

    公开(公告)号:US20110276277A1

    公开(公告)日:2011-11-10

    申请号:US12940992

    申请日:2010-11-05

    IPC分类号: G06F19/18 G06F19/10

    摘要: Systems, methods, and apparatuses for performing a prenatal diagnosis of a sequence imbalance are provided. A shift (e.g. to a smaller size distribution) can signify an imbalance in certain circumstances. For example, a size distribution of fragments of nucleic acids from an at-risk chromosome can be used to determine a fetal chromosomal aneuploidy. A size ranking of different chromosomes can be used to determine changes of a rank of an at-risk chromosome from an expected ranking. Also, a difference between a statistical size value for one chromosome can be compared to a statistical size value of another chromosome to identify a significant shift in size. A genotype and haplotype of the fetus may also be determined using a size distribution to determine whether a sequence imbalance occurs in a maternal sample relative to a genotypes or haplotype of the mother, thereby providing a genotype or haplotype of the fetus.

    摘要翻译: 提供了用于执行序列不平衡的产前诊断的系统,方法和装置。 在某些情况下,偏移(例如,到更小的分布)可以表示不平衡。 例如,可以使用来自高危染色体的核酸片段的大小分布来确定胎儿染色体非整倍体。 可以使用不同染色体的大小排序来从预期排名中确定危险染色体的等级的变化。 而且,一个染色体的统计大小值之间的差异可以与另一个染色体的统计大小值进行比较,以确定大小的显着变化。 也可以使用大小分布来确定胎儿的基因型和单倍型,以确定相对于母体的基因型或单倍型,母体样品中是否发生序列不平衡,从而提供胎儿的基因型或单倍型。

    Fetal Genomic Analysis From A Maternal Biological Sample
    37.
    发明申请
    Fetal Genomic Analysis From A Maternal Biological Sample 有权
    胎儿生物样品的胎儿基因组分析

    公开(公告)号:US20110105353A1

    公开(公告)日:2011-05-05

    申请号:US12940993

    申请日:2010-11-05

    IPC分类号: G01N33/53 G01N33/48 C12Q1/68

    摘要: Systems, methods, and apparatus for determining at least a portion of fetal genome are provided. DNA fragments from a maternal sample (maternal and fetal DNA) can be analyzed to identify alleles at certain loci. The amounts of DNA fragments of the respective alleles at these loci can be analyzed together to determine relative amounts of the haplotypes for these loci and determine which haplotypes have been inherited from the parental genomes. Loci where the parents are a specific combination of homozygous and heterozygous can be analyzed to determine regions of the fetal genome. Reference haplotypes common in the population can be used along with the analysis of the DNA fragments of the maternal sample to determine the maternal and paternal genomes. Determination of mutations, a fractional fetal DNA concentration in a maternal sample, and a proportion of coverage of a sequencing of the maternal sample can also be provided.

    摘要翻译: 提供了用于确定胎儿基因组的至少一部分的系统,方法和装置。 可以分析来自母体样品(母体和胎儿DNA)的DNA片段,以鉴定某些位点处的等位基因。 可以一起分析在这些位点处各个等位基因的DNA片段的量,以确定这些基因座的单倍型的相对量,并确定哪些单元型已经从亲代基因组遗传。 可以分析父母是纯合子和杂合子的特异性组合的位点,以确定胎儿基因组的区域。 可以在群体中常见的参考单倍型与母体样品的DNA片段的分析一起使用,以确定母体和父系的基因组。 也可以提供母体样品中突变的确定,胎儿DNA分数的分数以及母体样品测序的覆盖率。