公开(公告)号：US20140256569A1

公开(公告)日：2014-09-11

申请号：US14286895

申请日：2014-05-23

Applicant: Natera, Inc.

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

IPC: G06F19/22 ,  C12Q1/68

CPC classification number: C12Q1/6883 ,  C12Q1/6827 ,  C12Q1/6876 ,  C12Q2600/118 ,  C12Q2600/156 ,  C12Q2600/158 ,  G16B20/00 ,  G16B25/00 ,  G16B30/00 ,  G16B40/00 ,  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.

公开(公告)号：US20140154682A1

公开(公告)日：2014-06-05

申请号：US14080656

申请日：2013-11-14

Applicant: Natera, Inc.

Inventor： Matthew Rabinowitz ,  Allison Ryan ,  George Gemelos ,  Milena Banjevic ,  Zachary Demko

IPC: G06F19/18

CPC classification number: G06F19/22 ,  C12Q1/6827 ,  C12Q1/6874 ,  C12Q1/6876 ,  C12Q1/6883 ,  C12Q2600/156 ,  C12Q2600/16 ,  G06F19/18 ,  G06N7/005 ,  C12Q2537/16 ,  C12Q2537/165

Abstract: Disclosed herein are methods for determining the copy number of a chromosome in a fetus in the context of non-invasive prenatal diagnosis. In an embodiment, the measured genetic data from a sample of genetic material that contains both fetal DNA and maternal DNA is analyzed, along with the genetic data from the biological parents of the fetus, and the copy number of the chromosome of interest is determined. In an embodiment, the maternal serum is measured using a single-nucleotide polymorphism (SNP) microarray, along with parental genomic data, and the determination of the chromosome copy number is used to make clinical decisions pertaining to the fetus.

Abstract translation: 本文公开了用于在非侵入性产前诊断的上下文中确定胎儿中染色体的拷贝数的方法。 在一个实施方案中，分析来自含有胎儿DNA和母体DNA的遗传物质的样品的测量的遗传数据以及来自胎儿的生物亲本的遗传数据，并确定感兴趣的染色体的拷贝数。 在一个实施方案中，使用单核苷酸多态性（SNP）微阵列以及亲本基因组数据测量母体血清，并且使用染色体拷贝数的确定来进行与胎儿有关的临床决定。

公开(公告)号：US08682592B2

公开(公告)日：2014-03-25

申请号：US13793186

申请日：2013-03-11

Applicant: Natera, Inc.

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

IPC: G01N33/48

CPC classification number: G06F19/20 ,  G06F19/18

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：US12065703B2

公开(公告)日：2024-08-20

申请号：US18120873

申请日：2023-03-13

Applicant: Natera, Inc.

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

IPC: C12Q1/68 ,  C12Q1/6806 ,  C12Q1/6827 ,  C12Q1/6855 ,  C12Q1/6869 ,  C12Q1/6876 ,  C12Q1/6883 ,  C12Q1/6886 ,  G16B20/00 ,  G16B25/00 ,  G16B30/00 ,  G16B40/00

CPC classification number: C12Q1/6883 ,  C12Q1/6806 ,  C12Q1/6827 ,  C12Q1/6855 ,  C12Q1/6869 ,  C12Q1/6876 ,  C12Q1/6886 ,  G16B20/00 ,  G16B25/00 ,  G16B30/00 ,  G16B40/00 ,  C12Q2537/149 ,  C12Q2545/114 ,  C12Q2600/118 ,  C12Q2600/156 ,  C12Q2600/158

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：US20240060124A1

公开(公告)日：2024-02-22

申请号：US18227786

申请日：2023-07-28

Applicant: Natera, Inc.

Inventor： Allison Ryan ,  Styrmir Sigurjonsson ,  Milena Banjevic ,  George Gemelos ,  Matthew Hill ,  Johan Baner ,  Matthew Rabinowitz ,  Zachary Demko

IPC: C12Q1/6869 ,  C12Q1/6844 ,  C12Q1/6876 ,  G16B10/00

CPC classification number: C12Q1/6869 ,  C12Q1/6844 ,  C12Q1/6876 ,  G16B10/00 ,  C12Q2600/156

Abstract: Methods for non-invasive prenatal paternity testing are disclosed herein. The method uses genetic measurements made on plasma taken from a pregnant mother, along with genetic measurements of the alleged father, and genetic measurements of the mother, to determine whether or not the alleged father is the biological father of the fetus. This is accomplished by way of an informatics based method that can compare the genetic fingerprint of the fetal DNA found in maternal plasma to the genetic fingerprint of the alleged father.

公开(公告)号：US11525162B2

公开(公告)日：2022-12-13

申请号：US16829133

申请日：2020-03-25

Applicant: Natera, Inc.

Inventor： Matthew Rabinowitz ,  Matthew Micah Hill ,  Bernhard Zimmermann ,  Johan Baner ,  George Gemelos ,  Milena Banjevic ,  Allison Ryan ,  Styrmir Sigurjonsson ,  Zachary Demko

IPC: C12Q1/68 ,  C12Q1/6883 ,  C12Q1/6811 ,  C12Q1/6848 ,  C12Q1/6809 ,  C12Q1/6851 ,  C12Q1/6844 ,  C12Q1/6855 ,  C12Q1/6874

Abstract: The invention provides methods for simultaneously amplifying multiple nucleic acid regions of interest in one reaction volume as well as methods for selecting a library of primers for use in such amplification methods. The invention also provides library of primers with desirable characteristics, such as minimal formation of amplified primer dimers or other non-target amplicons.

公开(公告)号：US11519035B2

公开(公告)日：2022-12-06

申请号：US16934407

申请日：2020-07-21

Applicant: Natera, Inc.

Inventor： Matthew Rabinowitz ,  Matthew Micah Hill ,  Bernhard Zimmermann ,  Johan Baner ,  George Gemelos ,  Milena Banjevic ,  Allison Ryan ,  Styrmir Sigurjonsson ,  Zachary Demko

IPC: C12Q1/68 ,  C12Q1/6883 ,  C12Q1/6811 ,  C12Q1/6848 ,  C12Q1/6809 ,  C12Q1/6851 ,  C12Q1/6844 ,  C12Q1/6869 ,  C12Q1/6855 ,  C12Q1/6874

Abstract: The invention provides methods for simultaneously amplifying multiple nucleic acid regions of interest in one reaction volume as well as methods for selecting a library of primers for use in such amplification methods. The invention also provides library of primers with desirable characteristics, such as minimal formation of amplified primer dimers or other non-target amplicons.

公开(公告)号：US11459615B2

公开(公告)日：2022-10-04

申请号：US16829133

申请日：2020-03-25

Applicant: Natera, Inc.

Inventor： Matthew Rabinowitz ,  Matthew Micah Hill ,  Bernhard Zimmermann ,  Johan Baner ,  George Gemelos ,  Milena Banjevic ,  Allison Ryan ,  Styrmir Sigurjonsson ,  Zachary Demko

IPC: C12Q1/68 ,  C12Q1/6883 ,  C12Q1/6811 ,  C12Q1/6848 ,  C12Q1/6809 ,  C12Q1/6851 ,  C12Q1/6844 ,  C12Q1/6855 ,  C12Q1/6874

Abstract: The invention provides methods for simultaneously amplifying multiple nucleic acid regions of interest in one reaction volume as well as methods for selecting a library of primers for use in such amplification methods. The invention also provides library of primers with desirable characteristics, such as minimal formation of amplified primer dimers or other non-target amplicons.

公开(公告)号：US11345960B2

公开(公告)日：2022-05-31

申请号：US16012667

申请日：2018-06-19

Applicant: Natera, Inc.

Inventor： Allison Ryan ,  Styrmir Sigurjonsson ,  Milena Banjevic ,  George Gemelos ,  Matthew Hill ,  Johan Baner ,  Matthew Rabinowitz ,  Zachary Demko ,  Bernhard Zimmerman

IPC: C12Q1/68 ,  C12Q1/6869 ,  C12Q1/6876 ,  C12Q1/6844 ,  G16B10/00

Abstract: Methods for non-invasive prenatal paternity testing are disclosed herein. The method uses genetic measurements made on plasma taken from a pregnant mother, along with genetic measurements of the alleged father, and genetic measurements of the mother, to determine whether or not the alleged father is the biological father of the fetus. This is accomplished by way of an informatics based method that can compare the genetic fingerprint of the fetal DNA found in maternal plasma to the genetic fingerprint of the alleged father.

公开(公告)号：US11332793B2

公开(公告)日：2022-05-17

申请号：US16777700

申请日：2020-01-30

Applicant: Natera, Inc.

Inventor： Matthew Rabinowitz ,  Matthew Micah Hill ,  Bernhard Zimmermann ,  Johan Baner ,  George Gemelos ,  Milena Banjevic ,  Allison Ryan ,  Styrmir Sigurjonsson ,  Zachary Demko

IPC: C12Q1/68 ,  C12Q1/6883 ,  C12Q1/6809 ,  C12Q1/6874 ,  C12Q1/6855 ,  C12Q1/6811 ,  C12Q1/6844 ,  C12Q1/6848 ,  C12Q1/6851

Abstract: The invention provides methods for simultaneously amplifying multiple nucleic acid regions of interest in one reaction volume as well as methods for selecting a library of primers for use in such amplification methods. The invention also provides library of primers with desirable characteristics, such as minimal formation of amplified primer dimers or other non-target amplicons.