ASSAY SYSTEMS FOR DETERMINATION OF FETAL COPY NUMBER VARIATION
    17.
    发明申请
    ASSAY SYSTEMS FOR DETERMINATION OF FETAL COPY NUMBER VARIATION 审中-公开
    用于确定复制次数变化的测定系统

    公开(公告)号:US20120191367A1

    公开(公告)日:2012-07-26

    申请号:US13426157

    申请日:2012-03-21

    IPC分类号: G06F19/00

    CPC分类号: G16B20/00

    摘要: The present invention provides processes for determining accurate risk probabilities for chromosome dosage abnormalities. Specifically, the invention provides non-invasive evaluation of genomic variations through chromosome-selective sequencing and non-host fraction data analysis of maternal samples.

    摘要翻译: 本发明提供了确定染色体剂量异常的准确风险概率的方法。 具体地,本发明通过染色体选择性测序和母体样品的非宿主部分数据分析来提供对基因组变异的非侵入性评估。

    DETECTION OF GENETIC ABNORMALITIES
    18.
    发明申请
    DETECTION OF GENETIC ABNORMALITIES 审中-公开
    检测遗传异常

    公开(公告)号:US20120190020A1

    公开(公告)日:2012-07-26

    申请号:US13356133

    申请日:2012-01-23

    IPC分类号: C12Q1/68

    摘要: The present invention provides assay systems and related methods for determining genetic abnormalities in mixed samples comprising cell free DNA from both normal and putative genetically atypical cells. Exemplary mixed samples for analysis using the assay systems of the invention include samples comprising both maternal and fetal cell free DNA and samples that contain DNA from normal cells and circulating cancerous cells.

    摘要翻译: 本发明提供了用于测定包含来自正常和推定的遗传非典型细胞的无细胞DNA的混合样品中的遗传异常的测定系统和相关方法。 使用本发明的测定系统进行分析的示例性混合样品包括含有母体和胎儿无细胞DNA的样品以及含有来自正常细胞的DNA和循环癌细胞的样品。