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    METHODS FOR NON-INVASIVE PRENATAL PLOIDY CALLING
    96.
    发明申请
    METHODS FOR NON-INVASIVE PRENATAL PLOIDY CALLING 审中-公开

    公开(公告)号：US20190256908A1

    公开(公告)日：2019-08-22

    申请号：US16399991

    申请日：2019-04-30

    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.

    Methods for allele calling and ploidy calling
    99.
    发明授权
    Methods for allele calling and ploidy calling 有权

    公开(公告)号：US09639657B2

    公开(公告)日：2017-05-02

    申请号：US13846111

    申请日：2013-03-18

    Applicant: Natera, Inc.

    Inventor： Matthew Rabinowitz ,  George Gemelos ,  Milena Banjevic ,  Allison Ryan ,  Joshua Sweetkind-Singer

    IPC: G01N33/50 ,  G06F19/18 ,  C12Q1/68 ,  G06F19/24

    CPC classification number: G06F19/18 ,  C12Q1/6883 ,  C12Q2600/156 ,  G06F19/24

    Abstract: Disclosed herein is a system and method for making allele calls, and for determining the ploidy state, in one or a small set of cells, or where a limited quantity of genetic data is available. Poorly or incorrectly measured base pairs, missing alleles and missing regions are reconstructed and the haplotypes are determined using expected similarities between the target genome and the knowledge of the genomes of genetically related individuals. In one embodiment, incomplete genetic data from an embryonic cell are reconstructed at a plurality of loci using the genetic data from both parents, and possibly one or more sperm and/or sibling embryos. In another embodiment, the chromosome copy number can be determined using the same input data. In another embodiment, these determinations are made for embryo selection during IVF, for non-invasive prenatal diagnosis, or for making phenotypic predictions.

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