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292 条记录 (耗时 0.075 秒)

    Identifying a de novo fetal mutation from a maternal biological sample
    22.
    发明授权
    Identifying a de novo fetal mutation from a maternal biological sample 有权

    公开(公告)号：US10093976B2

    公开(公告)日：2018-10-09

    申请号：US13895304

    申请日：2013-05-15

    申请人： The Chinese University of Hong Kong

    发明人： Yuk Ming Dennis Lo ,  Kwan Chee Chan ,  Wai Kwon Rossa Chiu ,  Charles Cantor

    IPC分类号： G06F19/22 ,  C12Q1/68 ,  C12Q1/6876 ,  C12Q1/6827 ,  G06F19/18 ,  G06F19/24

    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.

    GENETIC MARKERS FOR MACULAR DEGENERATION DISORDER TREATMENT
    24.
    发明申请
    GENETIC MARKERS FOR MACULAR DEGENERATION DISORDER TREATMENT 审中-公开
    遗传标记为恶性恶化症状治疗

    公开(公告)号：US20140336055A1

    公开(公告)日：2014-11-13

    申请号：US14271269

    申请日：2014-05-06

    申请人： SEQUENOM, INC.

    发明人： Gregory HANNUM ,  Karsten E. Schmidt

    IPC分类号： C12Q1/68

    CPC分类号： C12Q1/6883 ,  C12Q2600/106 ,  C12Q2600/156

    摘要： Provided in part herein are genetic variations (e.g., single nucleotide polymorphisms) associated with a vascular endothelial growth factor (VEGF) suppression response to an anti-VEGF agent for treatment of a macular degeneration disorder (e.g., age-related macular degeneration (AMD)). Also provided herein are methods for determining a genotype that includes such genetic variations, methods for predicting a VEGF suppression response for a subject according to a genotype, and methods for selecting a treatment suitable for treating a macular degeneration disorder (e.g., wet AMD) for a subject in need thereof according to a genotype.

    摘要翻译： 本文部分提供了与用于治疗黄斑变性疾病（例如年龄相关性黄斑变性（AMD））的抗VEGF剂的血管内皮生长因子（VEGF）抑制反应相关的遗传变异（例如，单核苷酸多态性） ）。 本文还提供了确定包括这种遗传变异的基因型的方法，根据基因型预测受试者的VEGF抑制应答的方法，以及用于选择适合治疗黄斑变性病症（例如，湿性AMD）的治疗方法 根据基因型的有需要的受试者。

    Nucleic acid-based tests for prenatal gender determination
    25.
    发明授权
    Nucleic acid-based tests for prenatal gender determination 有权
    用于产前性别测定的基于核酸的试验

    公开(公告)号：US08709726B2

    公开(公告)日：2014-04-29

    申请号：US12401493

    申请日：2009-03-10

    申请人： Paul Andrew Oeth ,  Payam Mahboubi ,  Min Seob Lee

    发明人： Paul Andrew Oeth ,  Payam Mahboubi ,  Min Seob Lee

    IPC分类号： C12Q1/68 ,  C12P19/34 ,  C07H21/04

    CPC分类号： C12Q1/6879 ,  C12Q2600/16

    摘要： Provided herein are compositions, processes and kits for noninvasive, early determination of fetal sex from, and/or amount of fetal nucleic acid in, an extracellular nucleic acid sample from a pregnant female. Such compositions, processes and kits are useful for detection of low genomic copy numbers of male fetal nucleic acid in a high copy number background of female nucleic acid, thereby determining the sex of a fetus and/or amount of fetal nucleic acid in a sample.

    摘要翻译： 本文提供了从怀孕女性的细胞外核酸样品中非侵入性早期测定胎儿性别和/或胎儿核酸量的组合物，方法和试剂盒。 这样的组合物，方法和试剂盒可用于检测雌性核酸的高拷贝数背景下的雄性胎儿核酸的低基因组拷贝数，从而确定样品中胎儿的性别和/或胎儿核酸的量。

    QUANTIFICATION OF CELL-SPECIFIC NUCLEIC ACID MARKERS
    27.
    发明申请
    QUANTIFICATION OF CELL-SPECIFIC NUCLEIC ACID MARKERS 审中-公开
    细胞特异性核酸标记的定量

    公开(公告)号：US20130189684A1

    公开(公告)日：2013-07-25

    申请号：US13797377

    申请日：2013-03-12

    申请人： SEQUENOM, INC.

    发明人： Mathias EHRICH ,  Taylor JENSEN

    IPC分类号： C12Q1/68

    CPC分类号： C12Q1/6883 ,  C12Q1/6886 ,  C12Q2600/154

    摘要： The technology relates in part to selection, quantification and use of particular nucleic acid markers. In some embodiments, such markers are particular epigenetic markers, and sometimes each marker is a particular methylation state of a nucleic acid locus.

    摘要翻译： 该技术部分涉及特定核酸标记的选择，定量和使用。 在一些实施方案中，这样的标记是特定的表观遗传标记，并且有时每个标记是核酸基因座的特定甲基化状态。