公开(公告)号：US20190256906A1

公开(公告)日：2019-08-22

申请号：US16399794

申请日：2019-04-30

Applicant: Natera, Inc.

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

IPC: C12Q1/6869 ,  C12Q1/6827 ,  C12Q1/6874 ,  C12Q1/6806 ,  C12Q1/6883 ,  C12Q1/6862 ,  G16B20/00

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：US20190211393A1

公开(公告)日：2019-07-11

申请号：US16361611

申请日：2019-03-22

Applicant: Natera, Inc.

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

IPC: C12Q1/6869 ,  C12Q1/6862 ,  C12Q1/6806 ,  G16B20/00 ,  C12Q1/6827 ,  C12Q1/6874 ,  C12Q1/6883

CPC classification number: C12Q1/6869 ,  C12Q1/6806 ,  C12Q1/6827 ,  C12Q1/686 ,  C12Q1/6862 ,  C12Q1/6874 ,  C12Q1/6883 ,  C12Q2600/156 ,  C12Q2600/16 ,  G06F19/34 ,  G16B20/00 ,  G16B40/00 ,  C12Q2537/161 ,  C12Q2537/165 ,  C12Q2537/143

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：US20190211391A1

公开(公告)日：2019-07-11

申请号：US16289049

申请日：2019-02-28

Applicant: Natera, Inc.

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

IPC: C12Q1/6869 ,  C12Q1/6862 ,  C12Q1/6806 ,  G16B20/00 ,  C12Q1/6827 ,  C12Q1/6874 ,  C12Q1/6883

CPC classification number: C12Q1/6869 ,  C12Q1/6806 ,  C12Q1/6827 ,  C12Q1/686 ,  C12Q1/6862 ,  C12Q1/6874 ,  C12Q1/6883 ,  C12Q2600/156 ,  C12Q2600/16 ,  G06F19/34 ,  G16B20/00 ,  G16B40/00 ,  C12Q2537/161 ,  C12Q2537/165 ,  C12Q2537/143

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：US20180148777A1

公开(公告)日：2018-05-31

申请号：US15573800

申请日：2016-05-10

Applicant: Natera, Inc.

Inventor： Huseyin Eser KIRKIZLAR ,  Raheleh SALARI ,  Styrmir SIGURJONSSON ,  Bernhard ZIMMERMANN ,  Allison RYAN ,  Naresh VANKAYALAPATI

IPC: C12Q1/6858 ,  C12Q1/6869 ,  C12Q1/6886 ,  G06F19/18 ,  G16H10/40

CPC classification number: C12Q1/6858 ,  C12Q1/6869 ,  C12Q1/6886 ,  C12Q2539/10 ,  C12Q2600/106 ,  C12Q2600/156 ,  G16B20/00 ,  G16H10/40 ,  Y02A90/26

Abstract: The invention provides improved methods, compositions, and kits for detecting ploidy of chromosome regions, e.g. for detecting cancer or a chromosomal abnormality in a gestating fetus. The methods can utilize a set of more than 200 SNPs that are found within haploblocks and can include analyzing a series of target chromosomal regions related to cancer or a chromosomal abnormality in a gestating fetus. Finally the method may use knowledge about chromosome crossover locations or a best fit algorithm for the analysis. The compositions may comprise more than 200 primers located within haplotype blocks known to show CNV.

公开(公告)号：US20250163512A1

公开(公告)日：2025-05-22

申请号：US19028776

申请日：2025-01-17

Applicant: Natera, Inc.

Inventor： MATTHEW RABINOWITZ ,  Matthew HILL ,  Bernhard ZIMMERMANN ,  George GEMELOS ,  Johan BANER ,  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：US20250003003A1

公开(公告)日：2025-01-02

申请号：US18885063

申请日：2024-09-13

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：US20240401142A1

公开(公告)日：2024-12-05

申请号：US18812696

申请日：2024-08-22

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：US20240331799A1

公开(公告)日：2024-10-03

申请号：US18585708

申请日：2024-02-23

Applicant: Natera, Inc.

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

IPC: G16B20/00 ,  C12Q1/6806 ,  C12Q1/6827 ,  C12Q1/686 ,  C12Q1/6862 ,  C12Q1/6869 ,  C12Q1/6874 ,  C12Q1/6883 ,  G16B20/10 ,  G16B20/20 ,  G16B20/40 ,  G16B40/00

CPC classification number: G16B20/00 ,  C12Q1/6806 ,  C12Q1/6827 ,  C12Q1/686 ,  C12Q1/6862 ,  C12Q1/6869 ,  C12Q1/6874 ,  C12Q1/6883 ,  G16B20/10 ,  G16B20/20 ,  G16B20/40 ,  C12Q2525/179 ,  C12Q2527/113 ,  C12Q2527/143 ,  C12Q2537/143 ,  C12Q2537/149 ,  C12Q2537/159 ,  C12Q2545/114 ,  C12Q2600/156 ,  C12Q2600/16 ,  G16B40/00

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：US20240309456A1

公开(公告)日：2024-09-19

申请号：US18678417

申请日：2024-05-30

Applicant: Natera, Inc.

Inventor： MATTHEW RABINOWITZ ,  Matthew Micah HILL ,  Bernhard A. 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

CPC classification number: C12Q1/6883 ,  C12Q1/6809 ,  C12Q1/6811 ,  C12Q1/6844 ,  C12Q1/6848 ,  C12Q1/6851 ,  C12Q1/6855 ,  C12Q1/6869 ,  C12Q1/6874 ,  C12Q2600/156

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：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.