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    METHODS FOR PREIMPLANTATION GENETIC DIAGNOSIS BY SEQUENCING
    1.
    发明申请
    METHODS FOR PREIMPLANTATION GENETIC DIAGNOSIS BY SEQUENCING 审中-公开
    通过测序进行预先植入遗传诊断的方法

    公开(公告)号：WO2013052557A3

    公开(公告)日：2013-06-20

    申请号：PCT/US2012058578

    申请日：2012-10-03

    Applicant: NATERA INC ,  RABINOWITZ MATTHEW ,  HILL MATTHEW ,  ZIMMERMANN BERNHARD ,  BANER JOHAN ,  RYAN ALLISON ,  GEMELOS GEORGE

    Inventor： RABINOWITZ MATTHEW ,  HILL MATTHEW ,  ZIMMERMANN BERNHARD ,  BANER JOHAN ,  RYAN ALLISON ,  GEMELOS GEORGE

    IPC: C12Q1/68 ,  G06F19/20

    CPC classification number: C12Q1/6858 ,  C12Q1/6883 ,  C12Q2600/156 ,  G06F19/18 ,  C12Q2535/122 ,  C12Q2545/114

    Abstract: The present disclosure provides methods for determining the ploidy status of an embryo at a chromosome from a sample of DNA from an embryo. The ploidy state is determined by sequencing the DNA from one or more cells biopsied from the embryo, and analyzing the relative amounts of each allele at a plurality of polymorphic loci on the chromosome. In an embodiment, the ploidy state is determined by comparing the observed allele ratios to the expected allele ratios for different ploidy states. In an embodiment, the DNA is selectively amplified at a plurality of polymorphic loci by targeted sequencing. In an embodiment, the mixed sample of DNA may be preferentially enriched at a plurality of polymorphic loci in a way that minimizes the allelic bias.

    Abstract translation: 本公开提供了用于从来自胚胎的DNA样品确定染色体中胚胎倍性状态的方法。 倍性状态通过对来自胚胎活检的一个或多个细胞的DNA测序并分析染色体上多个多态性基因座处每个等位基因的相对量来确定。 在一个实施方案中，通过将观察到的等位基因比率与不同倍性状态的预期等位基因比率进行比较来确定倍性状态。 在一个实施方案中，通过靶向测序在多个多态性基因座选择性扩增DNA。 在一个实施方案中，DNA的混合样品可以以使等位基因偏倚最小化的方式在多个多态性基因座上优先富集。

    METHODS FOR PREIMPLANTATION GENETIC DIAGNOSIS BY SEQUENCING
    2.
    发明申请
    METHODS FOR PREIMPLANTATION GENETIC DIAGNOSIS BY SEQUENCING 审中-公开
    通过序列预测遗传学诊断的方法

    公开(公告)号：WO2013052557A2

    公开(公告)日：2013-04-11

    申请号：PCT/US2012/058578

    申请日：2012-10-03

    Applicant: NATERA, INC. ,  RABINOWITZ, Matthew ,  HILL, Matthew ,  ZIMMERMANN, Bernhard ,  BANER, Johan ,  RYAN, Allison ,  GEMELOS, George

    Inventor： RABINOWITZ, Matthew ,  HILL, Matthew ,  ZIMMERMANN, Bernhard ,  BANER, Johan ,  RYAN, Allison ,  GEMELOS, George

    IPC: C12Q1/68 ,  G06F19/24 ,  G06F19/20

    CPC classification number: C12Q1/6858 ,  C12Q1/6883 ,  C12Q2600/156 ,  G06F19/18 ,  C12Q2535/122 ,  C12Q2545/114

    Abstract: The present disclosure provides methods for determining the ploidy status of an embryo at a chromosome from a sample of DNA from an embryo. The ploidy state is determined by sequencing the DNA from one or more cells biopsied from the embryo, and analyzing the relative amounts of each allele at a plurality of polymorphic loci on the chromosome. In an embodiment, the ploidy state is determined by comparing the observed allele ratios to the expected allele ratios for different ploidy states. In an embodiment, the DNA is selectively amplified at a plurality of polymorphic loci by targeted sequencing. In an embodiment, the mixed sample of DNA may be preferentially enriched at a plurality of polymorphic loci in a way that minimizes the allelic bias.

    Abstract translation: 本公开提供了用于从胚胎的DNA样品测定染色体上胚胎的倍性状态的方法。 倍性状态通过对来自胚胎活检的一个或多个细胞的DNA进行测序，并分析染色体上多个多态性位点处的每个等位基因的相对量来确定。 在一个实施方案中，通过将观察到的等位基因比率与不同倍性状态的预期等位基因比率进行比较来确定倍性状态。 在一个实施方案中，通过靶向测序在多个多态位点选择性扩增DNA。 在一个实施方案中，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位点。

    METHODS FOR NON-INVASIVE PRENATAL PLOIDY CALLING
    4.
    发明申请
    METHODS FOR NON-INVASIVE PRENATAL PLOIDY CALLING 审中-公开
    非侵入式预防性呼吸方法

    公开(公告)号：WO2012108920A1

    公开(公告)日：2012-08-16

    申请号：PCT/US2011/061506

    申请日：2011-11-18

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

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

    IPC: G06F19/22 ,  G01N33/48

    CPC classification number: C12Q1/6869 ,  C12Q1/6806 ,  C12Q1/6827 ,  C12Q1/6862 ,  C12Q1/6874 ,  C12Q1/6883 ,  C12Q2600/156 ,  G06F19/18 ,  G06F19/24 ,  C12Q2537/161 ,  C12Q2537/165

    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。

    METHODS FOR ALLELE CALLING AND PLOIDY CALLING
    7.
    发明申请
    METHODS FOR ALLELE CALLING AND PLOIDY CALLING 审中-公开
    用于呼叫和呼叫呼叫的方法

    公开(公告)号：WO2010017214A1

    公开(公告)日：2010-02-11

    申请号：PCT/US2009/052730

    申请日：2009-08-04

    Applicant: GENE SECURITY NETWORK, INC. ,  RABINOWITZ, Matthew ,  GEMELOS, George ,  BANJEVIC, Milena ,  RYAN, Allison ,  SWEETKIND-SINGER, Joshua

    Inventor： RABINOWITZ, Matthew ,  GEMELOS, George ,  BANJEVIC, Milena ,  RYAN, Allison ,  SWEETKIND-SINGER, Joshua

    IPC: G01N33/483 ,  C12Q1/68

    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.

    Abstract translation: 本文公开了用于在一个或一小组细胞中或其中有限数量的遗传数据可用的等位基因调用和用于确定倍性状态的系统和方法。 重建不良或不正确的碱基对，缺失的等位基因和缺失区域，并使用目标基因组与遗传相关个体基因组知识之间的预期相似性来确定单倍型。 在一个实施方案中，使用来自双亲和可能的一个或多个精子和/或同胞胚胎的遗传数据在多个基因座重建来自胚胎细胞的不完全遗传数据。 在另一个实施方案中，可以使用相同的输入数据来确定染色体拷贝数。 在另一个实施方案中，进行这些测定用于IVF期间的胚胎选择，用于非侵入性产前诊断或用于进行表型预测。

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