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    METHODS FOR DETECTING IMMUNE CELL DNA AND MONITORING IMMUNE SYSTEM
    41.
    发明申请
    METHODS FOR DETECTING IMMUNE CELL DNA AND MONITORING IMMUNE SYSTEM 有权

    公开(公告)号：US20220251654A1

    公开(公告)日：2022-08-11

    申请号：US17616536

    申请日：2020-05-29

    Applicant: Natera, Inc.

    Inventor： Dina M. HAFEZ ,  Prashanthi NATARAJAN ,  Raheleh SALARI ,  Ryan SWENERTON ,  Bernhard ZIMMERMANN

    IPC: C12Q1/6881

    Abstract: The disclosure herein provides methods and compositions for detecting or monitoring immune cell populations in biological samples. The methods and compositions disclosed herein are particularly useful for detecting or monitoring immune cell populations in patients suffering from a disease or undergoing treatment of a disease resulting in depletion of immune cells. In particular, the present disclosure provides method for using multiplex PCR combined with next-generation DNA sequencing to detect DNA containing recombined V(D)J gene segments which can be used to detect immune cells.

    METHODS AND SYSTEMS FOR CALLING MUTATIONS
    45.
    发明申请
    METHODS AND SYSTEMS FOR CALLING MUTATIONS 有权

    公开(公告)号：US20210257048A1

    公开(公告)日：2021-08-19

    申请号：US16972930

    申请日：2019-06-12

    Applicant: Natera, Inc.

    Inventor： Bernhard ZIMMERMANN ,  Raheleh SALARI ,  Ryan SWENERTON ,  Dina M. HAFEZ

    IPC: G16B20/20 ,  C12Q1/6886

    Abstract: A method for calling a mutation includes determining, for each target base of a plurality of target bases, a respective value for a background error parameter based on training data. The method further includes determining a motif-specific error model including the background error parameter by performing processes that include: identifying a respective motif for each target base of the plurality of target bases, grouping the plurality of target bases into a plurality of groups, each group corresponding to a particular motif, and determining, for each group, a respective motif-specific parameter value for the background error parameter based on the determined values for the background error parameter for the target bases included in each group. The method further includes calling a mutation using the motif-specific error model and sequencing information for a biological sample.

    METHODS FOR NON-INVASIVE PRENATAL PLOIDY CALLING
    49.
    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.

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