公开(公告)号：US20190203294A1

公开(公告)日：2019-07-04

申请号：US16353636

申请日：2019-03-14

Applicant: Natera, Inc.

Inventor： Joshua Babiarz ,  Tudor Pompiliu Constantin ,  Lane A. Eubank ,  George Gemelos ,  Matthew Micah Hill ,  Huseyin Eser Kirkizlar ,  Matthew Rabinowitz ,  Onur Sakarya ,  Styrmir Sigurjonsson ,  Bernhard Zimmermann

IPC: C12Q1/6883 ,  C12Q1/6848 ,  C12Q1/6811

CPC classification number: C12Q1/6811 ,  C12Q1/6848 ,  C12Q1/6855 ,  C12Q1/6874 ,  C12Q1/6883 ,  C12Q2600/156 ,  C12Q2527/107 ,  C12Q2537/143

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：US10262755B2

公开(公告)日：2019-04-16

申请号：US14882763

申请日：2015-10-14

Applicant: Natera, Inc.

Inventor： Joshua Babiarz ,  Tudor Pompiliu Constantin ,  Lane A. Eubank ,  George Gemelos ,  Matthew Micah Hill ,  Huseyin Eser Kirkizlar ,  Matthew Rabinowitz ,  Onur Sakarya ,  Styrmir Sigurjonsson ,  Bernhard Zimmermann

IPC: C12Q1/68 ,  G16B30/00 ,  C12Q1/6811 ,  C12Q1/6848 ,  C12Q1/6883

Abstract: The invention provides methods, systems, and computer readable medium for detecting ploidy of chromosome segments or entire chromosomes, for detecting single nucleotide variants and for detecting both ploidy of chromosome segments and single nucleotide variants. In some aspects, the invention provides methods, systems, and computer readable medium for detecting cancer or a chromosomal abnormality in a gestating fetus.

公开(公告)号：US10227652B2

公开(公告)日：2019-03-12

申请号：US15187555

申请日：2016-06-20

Applicant: Natera, Inc.

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

IPC: G01N33/48 ,  C12Q1/6883 ,  C12Q1/6827 ,  G06F19/20 ,  G06F19/18 ,  G06F19/22 ,  C12Q1/6876 ,  G06F19/24

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：US10061890B2

公开(公告)日：2018-08-28

申请号：US15243915

申请日：2016-08-22

Applicant: Natera, Inc.

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

IPC: G06F19/22 ,  G06F19/18 ,  C12Q1/6827 ,  C12Q1/6874 ,  C12Q1/6876 ,  C12Q1/6883 ,  G06N7/00

CPC classification number: G16B30/00 ,  C12Q1/6827 ,  C12Q1/6874 ,  C12Q1/6876 ,  C12Q1/6883 ,  C12Q2600/156 ,  C12Q2600/16 ,  G06N7/005 ,  G16B20/00 ,  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.

公开(公告)号：US10061889B2

公开(公告)日：2018-08-28

申请号：US14983128

申请日：2015-12-29

Applicant: Natera, Inc.

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

IPC: G06F19/22 ,  G06F19/18 ,  C12Q1/6827 ,  C12Q1/6874 ,  C12Q1/6876 ,  C12Q1/6883 ,  G06N7/00

CPC classification number: G16B30/00 ,  C12Q1/6827 ,  C12Q1/6874 ,  C12Q1/6876 ,  C12Q1/6883 ,  C12Q2600/156 ,  C12Q2600/16 ,  G06N7/005 ,  G16B20/00 ,  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.

公开(公告)号：US09695477B2

公开(公告)日：2017-07-04

申请号：US15293257

申请日：2016-10-13

Applicant: Natera, Inc.

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

IPC: G01N33/48 ,  G01N31/00 ,  G06G7/48 ,  G06G7/58 ,  C12Q1/68 ,  G06F19/20 ,  G06F19/18 ,  G06F19/22 ,  G06F19/24

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.

公开(公告)号：US20170175187A1

公开(公告)日：2017-06-22

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

CPC classification number: C12Q1/6883 ,  C12Q1/6848 ,  C12Q1/6851 ,  C12Q1/6855 ,  C12Q1/6876 ,  C12Q2600/156 ,  C12Q2600/158 ,  G06F19/18 ,  G06F19/24 ,  G06N7/005 ,  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：US20250163516A1

公开(公告)日：2025-05-22

申请号：US19028651

申请日：2025-01-17

Applicant: Natera, Inc.

Inventor： Joshua Babiarz ,  Tudor Pompiliu Constantin ,  Lane A. Eubank ,  George Gemelos ,  Matthew Micah Hill ,  Huseyin Eser Kirkizlar ,  Matthew Rabinowitz ,  Onur Sakarya ,  Styrmir Sigurjonsson ,  Bernhard Zimmermann

IPC: C12Q1/6886 ,  C12Q1/6869 ,  G06N7/01 ,  G06N20/00 ,  G16B15/00 ,  G16B20/00 ,  G16B20/10 ,  G16B20/20 ,  G16B25/00 ,  G16B25/20 ,  G16B40/00 ,  G16B40/20 ,  G16H10/40 ,  G16H50/20 ,  G16Z99/00

Abstract: The invention provides methods, systems, and computer readable medium for detecting ploidy of chromosome segments or entire chromosomes, for detecting single nucleotide variants and for detecting both ploidy of chromosome segments and single nucleotide variants. In some aspects, the invention provides methods, systems, and computer readable medium for detecting cancer or a chromosomal abnormality in a gestating fetus.

公开(公告)号：US20240401138A1

公开(公告)日：2024-12-05

申请号：US18751175

申请日：2024-06-21

Applicant: Natera, Inc.

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

IPC: C12Q1/6883 ,  C12Q1/6809 ,  C12Q1/6811 ,  C12Q1/6844 ,  C12Q1/6848 ,  C12Q1/6851 ,  C12Q1/6855 ,  C12Q1/6869 ,  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：US20240336980A1

公开(公告)日：2024-10-10

申请号：US18747178

申请日：2024-06-18

Applicant: Natera, Inc.

Inventor： Joshua Babiarz ,  Tudor Pompiliu Constantin ,  Lane A. Eubank ,  George Gemelos ,  Matthew Micah Hill ,  Huseyin Eser Kirkizlar ,  Matthew Rabinowitz ,  Onur Sakarya ,  Styrmir Sigurjonsson ,  Bernhard Zimmermann

IPC: C12Q1/6886 ,  C12Q1/6869 ,  G06N7/01 ,  G06N20/00 ,  G16B15/00 ,  G16B20/00 ,  G16B20/10 ,  G16B20/20 ,  G16B25/00 ,  G16B25/20 ,  G16B40/00 ,  G16B40/20 ,  G16H10/40 ,  G16H50/20 ,  G16Z99/00

CPC classification number: C12Q1/6886 ,  C12Q1/6869 ,  G06N7/01 ,  G06N20/00 ,  G16B15/00 ,  G16B20/00 ,  G16B20/10 ,  G16B20/20 ,  G16B25/00 ,  G16B40/00 ,  G16B40/20 ,  G16H10/40 ,  G16H50/20 ,  G16Z99/00 ,  C12Q2539/10 ,  C12Q2600/156 ,  C12Q2600/158 ,  C12Q2600/16 ,  C12Q2600/172 ,  G16B25/20

Abstract: The invention provides methods, systems, and computer readable medium for detecting ploidy of chromosome segments or entire chromosomes, for detecting single nucleotide variants and for detecting both ploidy of chromosome segments and single nucleotide variants. In some aspects, the invention provides methods, systems, and computer readable medium for detecting cancer or a chromosomal abnormality in a gestating fetus.