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    Method for Non-Invasive Prenatal Testing Using Parental Mosaicism Data
    71.
    发明申请
    Method for Non-Invasive Prenatal Testing Using Parental Mosaicism Data 审中-公开

    公开(公告)号：US20200350034A1

    公开(公告)日：2020-11-05

    申请号：US16934509

    申请日：2020-07-21

    Applicant: Natera, Inc.

    Inventor： Matthew RABINOWITZ

    IPC: G16B20/00 ,  C12Q1/6881 ,  C12Q1/6883

    Abstract: Provided herein are methods for determining the ploidy state of one or more chromosome in a developing fetus. The subject methods provide for increase accuracy by utilizing information about the mosaicism level of one or more chromosomes of interest in the mother of fetus. The mosaicism level of one or more chromosomes of interest is determine for the maternal tissue that is used as the source of nucleic acid for genetic analysis that are used to determine the ploidy state of the fetal chromosome or chromosomes of interest. For example, if 5% white blood cells of mother are missing a copy of the X chromosome, this information can be used when determining fetal ploidy level, rather than operating under the assumption that the maternal X chromosome are present in two copies. Utilization of the mosaicism data can be used to increase the reliability and accuracy of the determination of the ploidy state of a chromosome of interest.

    METHODS FOR NON-INVASIVE PRENATAL PLOIDY CALLING
    74.
    发明申请
    METHODS FOR NON-INVASIVE PRENATAL PLOIDY CALLING 审中-公开

    公开(公告)号：US20190323076A1

    公开(公告)日：2019-10-24

    申请号：US16444619

    申请日：2019-06-18

    Applicant: Natera, Inc.

    Inventor： Matthew RABINOWITZ ,  George GEMELOS ,  Milena BANJEVIC ,  Allison RYAN ,  Zachary DEMKO ,  Matthew HILL ,  Bernhard ZIMMERMANN ,  Johan BANER

    IPC: C12Q1/6869 ,  C12Q1/6883 ,  C12Q1/6806 ,  C12Q1/686 ,  G16B20/00 ,  C12Q1/6827 ,  C12Q1/6862 ,  C12Q1/6874

    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.

    METHODS FOR NON-INVASIVE PRENATAL PLOIDY CALLING
    76.
    发明申请
    METHODS FOR NON-INVASIVE PRENATAL PLOIDY CALLING 审中-公开

    公开(公告)号：US20190309358A1

    公开(公告)日：2019-10-10

    申请号：US16395154

    申请日：2019-04-25

    Applicant: Natera, Inc.

    Inventor： Matthew RABINOWITZ ,  George GEMELOS ,  Milena BANJEVIC ,  Allison RYAN ,  Zachary DEMKO ,  Matthew HILL ,  Bernhard ZIMMERMANN ,  Johan BANER

    IPC: C12Q1/6869 ,  C12Q1/6827 ,  C12Q1/6874 ,  C12Q1/6806 ,  C12Q1/6883 ,  C12Q1/6862 ,  G16B20/00

    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.

    METHODS FOR NON-INVASIVE PRENATAL PLOIDY CALLING
    78.
    发明申请
    METHODS FOR NON-INVASIVE PRENATAL PLOIDY CALLING 审中-公开

    公开(公告)号：US20190264277A1

    公开(公告)日：2019-08-29

    申请号：US16411770

    申请日：2019-05-14

    Applicant: Natera, Inc.

    Inventor： Matthew RABINOWITZ ,  George GEMELOS ,  Milena BANJEVIC ,  Allison RYAN ,  Zachary DEMKO ,  Matthew HILL ,  Bernhard ZIMMERMANN ,  Johan BANER

    IPC: C12Q1/6869 ,  C12Q1/6862 ,  C12Q1/6806 ,  G16B20/00 ,  C12Q1/6827 ,  C12Q1/6874 ,  C12Q1/6883

    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.

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