公开(公告)号：US11111544B2

公开(公告)日：2021-09-07

申请号：US16823127

申请日：2020-03-18

Applicant: Natera, Inc.

Inventor： Matthew Rabinowitz ,  Milena Banjevic ,  Zachary Demko ,  David Johnson ,  Dusan Kijacic ,  Dimitri Petrov ,  Joshua Sweetkind-Singer ,  Jing Xu

IPC: C12Q1/68 ,  C12Q1/6883 ,  C12Q1/6876 ,  G16B40/00 ,  G16B30/00 ,  G16B20/00 ,  C12Q1/6827 ,  G16B25/00 ,  C12Q1/6806 ,  C12Q1/6869

Abstract: 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. 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, 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, the chromosome copy number can be determined from the measured genetic data, with or without genetic information from one or both parents.

公开(公告)号：US20200172977A1

公开(公告)日：2020-06-04

申请号：US16748647

申请日：2020-01-21

Applicant: Natera, Inc.

Inventor： Matthew Rabinowitz ,  Milena Banjevic ,  Zachary Demko ,  David Johnson

IPC: C12Q1/6883 ,  C12Q1/6876 ,  G16B40/00 ,  G16B30/00 ,  G16B25/00 ,  G16B20/00 ,  C12Q1/6827

Abstract: 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(公告)号：US20190256912A1

公开(公告)日：2019-08-22

申请号：US16399911

申请日：2019-04-30

Applicant: Natera, Inc.

Inventor： Matthew Rabinowitz ,  Milena Banjevic ,  Zachary Demko ,  David Johnson ,  Dusan Kijacic ,  Dimitri Petrov ,  Joshua Sweetkind-Singer ,  Jing Xu

IPC: C12Q1/6876 ,  G06N7/00 ,  G16B20/00 ,  C12Q1/6855 ,  G16B40/00 ,  C12Q1/6883 ,  C12Q1/6851 ,  C12Q1/6848

Abstract: 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. 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, 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, the chromosome copy number can be determined from the measured genetic data, with or without genetic information from one or both parents.

公开(公告)号：US10266893B2

公开(公告)日：2019-04-23

申请号：US15881384

申请日：2018-01-26

Applicant: Natera, Inc.

Inventor： Matthew Rabinowitz ,  Milena Banjevic ,  Zachary Demko ,  David Johnson ,  Dusan Kijacic ,  Dimitri Petrov ,  Joshua Sweetkind-Singer ,  Jing Xu

IPC: C12Q1/6848 ,  C12Q1/6851 ,  C12Q1/6855 ,  C12Q1/6876 ,  C12Q1/6883 ,  G06N7/00 ,  G06F19/18 ,  G06F19/24

Abstract: 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. 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, 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, the chromosome copy number can be determined from the measured genetic data, with or without genetic information from one or both parents.

公开(公告)号：US20170029893A1

公开(公告)日：2017-02-02

申请号：US15293257

申请日：2016-10-13

Applicant: Natera, Inc.

Inventor： Matthew Rabinowitz ,  Milena Banjevic ,  Zachary Demko ,  David Johnson

IPC: C12Q1/68 ,  G06F19/22

CPC classification number: C12Q1/6883 ,  C12Q1/6827 ,  C12Q1/6876 ,  C12Q2600/118 ,  C12Q2600/156 ,  C12Q2600/158 ,  G06F19/18 ,  G06F19/20 ,  G06F19/22 ,  G06F19/24 ,  C12Q2537/16 ,  C12Q2537/165

Abstract: 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.

Abstract translation: 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。

公开(公告)号：US20140032128A1

公开(公告)日：2014-01-30

申请号：US13949212

申请日：2013-07-23

Applicant: Natera, Inc.

Inventor： Matthew Rabinowitz ,  Milena Banjevic ,  Zachary Demko ,  David Johnson ,  Dusan Kijacic ,  Dimitri Petrov ,  Joshua Sweetkind-Singer ,  Jing Xu

IPC: G06F19/16

CPC classification number: G06F19/16 ,  C12Q1/6855 ,  C12Q1/6874 ,  G06F19/18 ,  G06F19/24 ,  G06Q50/22

Abstract: 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. 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, 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, the chromosome copy number can be determined from the measured genetic data, with or without genetic information from one or both parents.

Abstract translation: 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 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或两个亲本的单倍体遗传数据 。 在另一个实施方案中，可以从测量的遗传数据确定染色体拷贝数，具有或不具有来自一个或两个亲本的遗传信息。

公开(公告)号：US11306359B2

公开(公告)日：2022-04-19

申请号：US16288690

申请日：2019-02-28

Applicant: Natera, Inc.

Inventor： Matthew Rabinowitz ,  Milena Banjevic ,  Zachary Demko ,  David Johnson

IPC: C12Q1/6883 ,  C12Q1/6827 ,  G16B20/00 ,  G16B25/00 ,  G16B30/00 ,  G16B40/00 ,  G16B20/20 ,  G16B20/40 ,  C12Q1/6876

Abstract: 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(公告)号：US11111543B2

公开(公告)日：2021-09-07

申请号：US16803739

申请日：2020-02-27

Applicant: Natera, Inc.

Inventor： Matthew Rabinowitz ,  Milena Banjevic ,  Zachary Demko ,  David Johnson ,  Dusan Kijacic ,  Dimitri Petrov ,  Joshua Sweetkind-Singer ,  Jing Xu

IPC: C12Q1/6883 ,  C12Q1/6876 ,  G16B40/00 ,  G16B30/00 ,  G16B20/00 ,  C12Q1/6827 ,  G16B25/00 ,  C12Q1/6855 ,  C12Q1/686 ,  C12Q1/6869

Abstract: 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. 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, 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, the chromosome copy number can be determined from the measured genetic data, with or without genetic information from one or both parents.

公开(公告)号：US10081839B2

公开(公告)日：2018-09-25

申请号：US15413200

申请日：2017-01-23

Applicant: Natera, Inc.

Inventor： Matthew Rabinowitz ,  Milena Banjevic ,  Zachary Demko ,  David Johnson ,  Dusan Kijacic ,  Dimitri Petrov ,  Joshua Sweetkind-Singer ,  Jing Xu

IPC: C12Q1/68 ,  C12Q1/6876

CPC classification number: C12Q1/6876 ,  C12Q1/6848 ,  C12Q1/6851 ,  C12Q1/6855 ,  C12Q1/6883 ,  C12Q2600/156 ,  C12Q2600/158 ,  G06N7/005 ,  G16B20/00 ,  G16B40/00 ,  C12Q2525/155 ,  C12Q2535/122 ,  C12Q2537/16

Abstract: 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. 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, 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, the chromosome copy number can be determined from the measured genetic data, with or without genetic information from one or both parents.

公开(公告)号：US20160369345A1

公开(公告)日：2016-12-22

申请号：US15191197

申请日：2016-06-23

Applicant: Natera, Inc.

Inventor： Matthew Rabinowitz ,  Milena Banjevic ,  Zachary Demko ,  David Johnson

IPC: C12Q1/68 ,  G06F19/24 ,  G06F19/22

CPC classification number: C12Q1/6883 ,  C12Q1/6827 ,  C12Q1/6876 ,  C12Q2600/118 ,  C12Q2600/156 ,  C12Q2600/158 ,  G06F19/18 ,  G06F19/20 ,  G06F19/22 ,  G06F19/24 ,  C12Q2537/16 ,  C12Q2537/165

Abstract: 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. 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 from an embryonic cell is reconstructed using the more complete genetic data from a larger sample of 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. In accordance with another embodiment of the invention, incomplete genetic data from a fetus is acquired from 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. In one embodiment, the genetic data can be reconstructed for the purposes of making phenotypic predictions. In another embodiment, the genetic data can be used to detect for aneuploides and uniparental disomy.

Abstract translation: 用于确定有限数量的遗传数据可用的一个或一小组细胞或来自片段DNA的遗传数据的系统和方法。 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，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重建来自胚胎细胞的不完整遗传数据，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。 根据本发明的另一个实施方案，从胎儿细胞或从母体血液中分离的无细胞胎儿DNA获得来自胎儿的不完整遗传数据，并且使用来自较大样本的更完整的遗传数据重建不完全遗传数据 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。 在一个实施方案中，为了进行表型预测的目的，可以重建遗传数据。 在另一个实施方案中，遗传数据可以用于检测非整倍体和单亲二倍体。