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    FETAL GENOMIC ANALYSIS FROM A MATERNAL BIOLOGICAL SAMPLE
    4.
    发明公开
    FETAL GENOMIC ANALYSIS FROM A MATERNAL BIOLOGICAL SAMPLE 审中-公开
    母体生物样本的胎儿基因组分析

    公开(公告)号：EP3241914A1

    公开(公告)日：2017-11-08

    申请号：EP17168527.4

    申请日：2010-11-05

    申请人： The Chinese University Of Hong Kong ,  Sequenom, Inc.

    发明人： LO, Yuk Ming Dennis ,  CHAN, Kwan Chee ,  CHIU, Wai Kwun Rossa ,  CANTOR, Charles

    IPC分类号： C12Q1/68

    CPC分类号： C12Q1/6876 ,  C12Q1/6827 ,  G06F19/18 ,  G06F19/22 ,  G06F19/24 ,  Y10T436/143333 ,  C12Q2537/165 ,  C12Q2535/101 ,  C12Q2527/125

    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，方法和设备。 可以分析母体样品（母体和胎儿DNA）的DNA片段以鉴定某些基因座的等位基因。 可以一起分析这些基因座处各个等位基因的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倍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定组合的基因座以确定胎儿基因组的区域。 群体中常见的参考单体型可以与母体样品的DNA片段分析一起使用以确定母本和父本基因组。 还可以提供突变的确定，母体样品中分数的胎儿DNA浓度以及母体样品测序覆盖率的比例。

    FETAL GENOMIC ANALYSIS FROM A MATERNAL BIOLOGICAL SAMPLE
    6.
    发明公开
    FETAL GENOMIC ANALYSIS FROM A MATERNAL BIOLOGICAL SAMPLE 审中-公开

    公开(公告)号：EP3498863A1

    公开(公告)日：2019-06-19

    申请号：EP19153788.5

    申请日：2010-11-05

    申请人： The Chinese University Of Hong Kong ,  Sequenom, Inc.

    发明人： LO, Yuk Ming Dennis ,  CHAN, Kwan Chee ,  CHIU, Wai Kwun Rossa ,  CANTOR, Charles

    IPC分类号： C12Q1/68 ,  C12Q1/6827

    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.

    FETAL GENOMIC ANALYSIS FROM A MATERNAL BIOLOGICAL SAMPLE
    8.
    发明公开
    FETAL GENOMIC ANALYSIS FROM A MATERNAL BIOLOGICAL SAMPLE 审中-公开

    公开(公告)号：EP3783110A1

    公开(公告)日：2021-02-24

    申请号：EP20200970.0

    申请日：2010-11-05

    申请人： The Chinese University Of Hong Kong ,  Sequenom, Inc.

    发明人： LO, Yuk Ming Dennis ,  CHAN, Kwan Chee ,  CHIU, Wai Kwun Rossa ,  CANTOR, Charles

    IPC分类号： C12Q1/68 ,  C12Q1/6827

    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.

    FETAL GENOMIC ANALYSIS FROM A MATERNAL BIOLOGICAL SAMPLE
    9.
    发明公开
    FETAL GENOMIC ANALYSIS FROM A MATERNAL BIOLOGICAL SAMPLE 审中-公开

    公开(公告)号：EP4170043A1

    公开(公告)日：2023-04-26

    申请号：EP22198296.0

    申请日：2010-11-05

    申请人： The Chinese University Of Hong Kong ,  Sequenom, Inc.

    发明人： LO, Yuk Ming Dennis ,  CHAN, Kwan Chee ,  CHIU, Wai Kwun Rossa ,  CANTOR, Charles

    IPC分类号： 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.