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    • 1. 发明申请
    • System and method for cleaning noisy genetic data and determining chromosome copy number
    • 清除嘈杂遗传数据和确定染色体拷贝数的系统和方法
    • US20080243398A1
    • 2008-10-02
    • US12076348
    • 2008-03-17
    • Matthew RabinowitzMilena BanjevicZachary DemkoDavid Scott JohnsonDusan KijacicDimitri PetrovJosh Sweetkind-SingerJing Xu
    • Matthew RabinowitzMilena BanjevicZachary DemkoDavid Scott JohnsonDusan KijacicDimitri PetrovJosh Sweetkind-SingerJing Xu
    • G01N33/48
    • G06F19/16C12Q1/6855C12Q1/6874G06F19/18G06F19/24G06Q50/22
    • Disclosed herein is a system and method for increasing the fidelity of measured genetic data, for making allele calls, and for determining the state of aneuploidy, in one or a small set of cells, or from fragmentary DNA, where a limited quantity of genetic data is available. Genetic material from the target individual is acquired, amplified and the genetic data is measured using known methods. Poorly or incorrectly measured base pairs, missing alleles and missing regions are reconstructed using expected similarities between the target genome and the genome of genetically related individuals. In accordance with one embodiment of the invention, incomplete genetic data from an embryonic cell are reconstructed at a plurality of loci using the more complete genetic data from a larger sample of diploid cells from one or both parents, with or without haploid genetic data from one or both parents. In another embodiment of the invention, the chromosome copy number can be determined from the measured genetic data of a single or small number of cells, with or without genetic information from one or both parents. In another embodiment of the invention, these determinations are made for the purpose of embryo selection in the context of in-vitro fertilization. In another embodiment of the invention, the genetic data can be reconstructed for the purposes of making phenotypic predictions.
    • 本文公开了一种系统和方法,用于增加测量的遗传数据的保真度,进行等位基因调用,并确定在一组或一组细胞中或从片段DNA中确定非整倍体的状态,其中有限数量的遗传数据 是可用的 获取,扩增来自目标个体的遗传物质,并使用已知方法测量遗传数据。 使用目标基因组与遗传相关个体的基因组之间的预期相似性来重建差或不正确测量的碱基对,缺失的等位基因和缺失区域。 根据本发明的一个实施方案,使用来自一个或两个亲本的二倍体细胞的较大样本的更完整的遗传数据,在多个基因座重建来自胚胎细胞的不完全遗传数据,具有或不具有来自一个的单倍体遗传数据 或双亲。 在本发明的另一个实施方案中,染色体拷贝数可以从单个或少数细胞的测量的遗传数据确定,具有或不具有来自一个或两个亲本的遗传信息。 在本发明的另一个实施方案中,这些确定是为了在体外受精的背景下进行胚胎选择的目的。 在本发明的另一个实施方案中,为了进行表型预测的目的,可以重建遗传数据。
    • 2. 发明授权
    • System and method for cleaning noisy genetic data and determining chromosome copy number
    • 清除嘈杂遗传数据和确定染色体拷贝数的系统和方法
    • US08515679B2
    • 2013-08-20
    • US12076348
    • 2008-03-17
    • Matthew RabinowitzMilena BanjevicZachary DemkoDavid Scott JohnsonDusan KijacicDimitri PetrovJosh Sweetkind-SingerJing Xu
    • Matthew RabinowitzMilena BanjevicZachary DemkoDavid Scott JohnsonDusan KijacicDimitri PetrovJosh Sweetkind-SingerJing Xu
    • G01N33/48G01N31/00G06G7/48G06G7/58
    • G06F19/16C12Q1/6855C12Q1/6874G06F19/18G06F19/24G06Q50/22
    • Disclosed herein is a system and method for increasing the fidelity of measured genetic data, for making allele calls, and for determining the state of aneuploidy, in one or a small set of cells, or from fragmentary DNA, where a limited quantity of genetic data is available. Genetic material from the target individual is acquired, amplified and the genetic data is measured using known methods. Poorly or incorrectly measured base pairs, missing alleles and missing regions are reconstructed using expected similarities between the target genome and the genome of genetically related individuals. In accordance with one embodiment of the invention, incomplete genetic data from an embryonic cell are reconstructed at a plurality of loci using the more complete genetic data from a larger sample of diploid cells from one or both parents, with or without haploid genetic data from one or both parents. In another embodiment of the invention, the chromosome copy number can be determined from the measured genetic data of a single or small number of cells, with or without genetic information from one or both parents. In another embodiment of the invention, these determinations are made for the purpose of embryo selection in the context of in-vitro fertilization. In another embodiment of the invention, the genetic data can be reconstructed for the purposes of making phenotypic predictions.
    • 本文公开了一种系统和方法,用于增加测量的遗传数据的保真度,进行等位基因调用,并确定在一组或一组细胞中或从片段DNA中确定非整倍体的状态,其中有限数量的遗传数据 是可用的 获取,扩增来自目标个体的遗传物质,并使用已知方法测量遗传数据。 使用目标基因组与遗传相关个体的基因组之间的预期相似性来重建差或不正确测量的碱基对,缺失的等位基因和缺失区域。 根据本发明的一个实施方案,使用来自一个或两个亲本的二倍体细胞的较大样本的更完整的遗传数据,在多个基因座重建来自胚胎细胞的不完全遗传数据,具有或不具有来自一个的单倍体遗传数据 或双亲。 在本发明的另一个实施方案中,染色体拷贝数可以从单个或少数细胞的测量的遗传数据确定,具有或不具有来自一个或两个亲本的遗传信息。 在本发明的另一个实施方案中,这些确定是为了在体外受精的背景下进行胚胎选择的目的。 在本发明的另一个实施方案中,为了进行表型预测的目的,可以重建遗传数据。
    • 3. 发明申请
    • SYSTEM AND METHOD FOR CLEANING NOISY GENETIC DATA FROM TARGET INDIVIDUALS USING GENETIC DATA FROM GENETICALLY RELATED INDIVIDUALS
    • 使用遗传资料从遗传相关个体清除目标个体的噪声遗传数据的系统和方法
    • US20130252824A1
    • 2013-09-26
    • US13793186
    • 2013-03-11
    • Matthew RabinowitzMilena BanjevicZachary DemkoDavid Johnson
    • Matthew RabinowitzMilena BanjevicZachary DemkoDavid Johnson
    • G06F19/20
    • G06F19/20G06F19/18
    • A system and method for determining the genetic data for one or a small set of cells, or from fragmentary DNA, where a limited quantity of genetic data is available, are disclosed. Genetic data for the target individual is acquired and amplified using known methods, and poorly measured base pairs, missing alleles and missing regions are reconstructed using expected similarities between the target genome and the genome of genetically related subjects. In accordance with one embodiment of the invention, incomplete genetic data is acquired from embryonic cells, fetal cells, or cell-free fetal DNA isolated from the mother's blood, and the incomplete genetic data is reconstructed using the more complete genetic data from a larger sample diploid cells from one or both parents, with or without genetic data from haploid cells from one or both parents, and/or genetic data taken from other related individuals.
    • 公开了一种用于确定一个或一小组细胞遗传数据的系统和方法,或从有限数量的遗传数据获得的片段DNA。 使用已知方法获取和扩增目标个体的遗传数据,并且使用目标基因组与基因相关受试者的基因组之间的预期相似性重建差测量的碱基对,缺失的等位基因和缺失区域。 根据本发明的一个实施方案,从母体血液中分离的胚胎细胞,胎儿细胞或无细胞胎儿DNA获得不完整的遗传数据,并且使用更大的样本的更完整的遗传数据来重建不完整的遗传数据 来自一个或两个父母的二倍体细胞,具有或不具有来自一个或两个亲本的单倍体细胞的遗传数据和/或从其他相关个体获取的遗传数据。