公开(公告)号：US20240002938A1

公开(公告)日：2024-01-04

申请号：US18243569

申请日：2023-09-07

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

CPC classification number: C12Q1/6883 ,  C12Q1/6876 ,  G16B40/00 ,  G16B30/00 ,  G16B20/00 ,  C12Q1/6827 ,  G16B25/00 ,  C12Q1/6855 ,  C12Q1/686 ,  C12Q1/6869 ,  C12Q2600/156 ,  C12Q2600/158 ,  C12Q2600/118

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：US20230212693A1

公开(公告)日：2023-07-06

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: C12Q1/6886 ,  C12Q1/6869 ,  C12Q1/6855 ,  G16B20/00 ,  G16B30/00

CPC classification number: C12Q1/6886 ,  C12Q1/6869 ,  C12Q1/6855 ,  G16B20/00 ,  G16B30/00

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：US20230054494A1

公开(公告)日：2023-02-23

申请号：US17945334

申请日：2022-09-15

Applicant: Natera, Inc.

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

IPC: G16B20/00 ,  C12Q1/6827 ,  C12Q1/6862 ,  C12Q1/686 ,  G16B20/10 ,  G16B20/20 ,  G16B20/40 ,  C12Q1/6883 ,  C12Q1/6869 ,  C12Q1/6806 ,  C12Q1/6874

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.

公开(公告)号：US20220282335A1

公开(公告)日：2022-09-08

申请号：US17738354

申请日：2022-05-06

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

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：US20220154290A1

公开(公告)日：2022-05-19

申请号：US17568854

申请日：2022-01-05

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

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：US20220098667A1

公开(公告)日：2022-03-31

申请号：US17545881

申请日：2021-12-08

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 ,  C12Q1/6811 ,  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：US20220033908A1

公开(公告)日：2022-02-03

申请号：US17503182

申请日：2021-10-15

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 ,  C12Q1/6806 ,  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：US20220025455A1

公开(公告)日：2022-01-27

申请号：US17494726

申请日：2021-10-05

Applicant: Natera, Inc.

Inventor： Bernhard ZIMMERMANN ,  Ryan SWENERTON ,  Matthew RABINOWITZ ,  Styrmir SIGURJONSSON ,  George GEMELOS ,  Apratim GANGULY ,  Himanshu SETHI

IPC: C12Q1/6869 ,  C12Q1/6806

Abstract: The present disclosure provides methods and compositions for sequencing nucleic acid molecules and identifying individual sample nucleic acid molecules using Molecular Index Tags (MITs). Furthermore, reaction mixtures, kits, and adapter libraries are provided.

公开(公告)号：US20210198742A1

公开(公告)日：2021-07-01

申请号：US17196659

申请日：2021-03-09

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 ,  C12Q1/6811 ,  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：US20210054459A1

公开(公告)日：2021-02-25

申请号：US16918820

申请日：2020-07-01

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.