Cell free DNA diagnostic testing standards
    13.
    发明授权
    Cell free DNA diagnostic testing standards 有权
    无细胞DNA诊断检测标准

    公开(公告)号:US09499870B2

    公开(公告)日:2016-11-22

    申请号:US14498629

    申请日:2014-09-26

    Applicant: Natera, Inc.

    Abstract: Embodiments of the invention include methods and compositions for producing proficiency testing standards for noninvasive prenatal genetic diagnostics and for the detection and monitoring of cancer. The compositions can include a plurality of different nucleosomal DNA fragments derived from either primary cells or cell lines. The amount of the different nucleosomal DNA fragments can be varied so as to simulate naturally occurring cell free DNA samples obtained from the blood of the pregnant woman or naturally occurring cell free DNA samples obtained from the blood of cancer patients.

    Abstract translation: 本发明的实施方案包括用于生产非侵入性产前遗传诊断能力检测标准和检测和监测癌症的方法和组合物。 组合物可以包含衍生自原代细胞或细胞系的多个不同的核小体DNA片段。 可以改变不同核小体DNA片段的量,以模拟从孕妇的血液中获得的天然存在的无细胞DNA样品或从癌症患者的血液获得的天然存在的无细胞DNA样品。

    CELL FREE DNA DIAGNOSTIC TESTING STANDARDS
    14.
    发明申请
    CELL FREE DNA DIAGNOSTIC TESTING STANDARDS 审中-公开
    细胞免费DNA诊断测试标准

    公开(公告)号:US20160244838A1

    公开(公告)日:2016-08-25

    申请号:US14996097

    申请日:2016-01-14

    Applicant: Natera, Inc.

    Abstract: Embodiments of the invention include methods and compositions for producing standards for noninvasive prenatal genetic diagnostics and for the detection and monitoring of cancer. The compositions can include a plurality of different nucleosomal DNA fragments derived from either primary cells or cell lines and can include one or more synthetic oligonucleotides. The amount of the different nucleosomal DNA fragments can be varied so as to simulate naturally occurring cell free DNA samples obtained from the blood of the pregnant woman or naturally occurring cell free DNA samples obtained from the blood of cancer patients.

    Abstract translation: 本发明的实施方案包括用于产生非侵入性产前遗传诊断标准和用于检测和监测癌症的方法和组合物。 所述组合物可以包含衍生自原代细胞或细胞系的多种不同的核小体DNA片段,并且可以包括一种或多种合成的寡核苷酸。 可以改变不同核小体DNA片段的量,以模拟从孕妇的血液中获得的天然存在的无细胞DNA样品或从癌症患者的血液获得的天然存在的无细胞DNA样品。

    Methods for non-invasive prenatal ploidy calling
    15.
    发明授权
    Methods for non-invasive prenatal ploidy calling 有权
    非侵入性产前倍性调用方法

    公开(公告)号:US09163282B2

    公开(公告)日:2015-10-20

    申请号:US13791397

    申请日:2013-03-08

    Applicant: Natera, Inc.

    Abstract: The present disclosure provides methods for determining the ploidy status of a chromosome in a gestating fetus from genotypic data measured from a mixed sample of DNA comprising DNA from both the mother of the fetus and from the fetus, and optionally from genotypic data from the mother and father. The ploidy state is determined by using a joint distribution model to create a plurality of expected allele distributions for different possible fetal ploidy states given the parental genotypic data, and comparing the expected allelic distributions to the pattern of measured allelic distributions measured in the mixed sample, and choosing the ploidy state whose expected allelic distribution pattern most closely matches the observed allelic distribution pattern. The mixed sample of DNA may be preferentially enriched at a plurality of polymorphic loci in a way that minimizes the allelic bias, for example using massively multiplexed targeted PCR.

    Abstract translation: 本公开提供了从包括来自胎儿母体和胎儿的DNA的DNA的混合样品测量的基因型数据以及任选地来自母体的基因型数据以及任选地从胎儿的基因型数据确定胎儿胎儿的染色体的倍性状态的方法 父亲。 通过使用联合分布模型来确定给定父母基因型数据的不同可能胎儿倍性状态的多个预期等位基因分布,并将预期等位基因分布与混合样品中测量的等位基因分布的模式进行比较来确定倍性状态, 并选择其预期等位基因分布模式与观察到的等位基因分布模式最接近的倍性状态。 DNA的混合样品可以以使等位基因偏倚最小化的方式优先富集在多个多态性位点,例如使用大规模复用的靶向PCR。

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