公开(公告)号：US12203142B2

公开(公告)日：2025-01-21

申请号：US18678577

申请日：2024-05-30

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 ,  G16B40/00 ,  G16B40/20 ,  G16H10/40 ,  G16H50/20 ,  G16Z99/00 ,  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.

公开(公告)号：US20240376544A1

公开(公告)日：2024-11-14

申请号：US18792372

申请日：2024-08-01

Applicant: Natera, Inc.

Inventor： Matthew Rabinowitz ,  Matthew Micah Hill ,  Bernhard Zimmermann ,  Johan Baner ,  George Gemelos ,  Milena Eser 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：US12110552B2

公开(公告)日：2024-10-08

申请号：US16856924

申请日：2020-04-23

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

CPC classification number: C12Q1/6883 ,  C12Q1/6809 ,  C12Q1/6811 ,  C12Q1/6844 ,  C12Q1/6848 ,  C12Q1/6851 ,  C12Q1/6855 ,  C12Q1/6869 ,  C12Q1/6874 ,  C12Q2600/156 ,  C12Q1/6848 ,  C12Q2527/107 ,  C12Q2537/143 ,  C12Q1/6809 ,  C12Q2527/107 ,  C12Q2537/143 ,  C12Q1/6851 ,  C12Q2531/113 ,  C12Q2535/122 ,  C12Q2537/143 ,  C12Q2563/159

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：US20240318263A1

公开(公告)日：2024-09-26

申请号：US18733681

申请日：2024-06-04

Applicant: Natera, Inc.

Inventor： Joshua BABIARZ ,  Tudor Pompiliu Consantin ,  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.

公开(公告)号：US12020778B2

公开(公告)日：2024-06-25

申请号：US16361511

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: 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 ,  C12Q1/6827 ,  C12Q2537/161 ,  C12Q2537/165 ,  C12Q1/686 ,  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：US11939634B2

公开(公告)日：2024-03-26

申请号：US17018966

申请日：2020-09-11

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

CPC classification number: C12Q1/6883 ,  C12Q1/6809 ,  C12Q1/6811 ,  C12Q1/6844 ,  C12Q1/6848 ,  C12Q1/6851 ,  C12Q1/6855 ,  C12Q1/6869 ,  C12Q1/6874 ,  C12Q2600/156 ,  C12Q1/6848 ,  C12Q2527/107 ,  C12Q2537/143 ,  C12Q1/6809 ,  C12Q2527/107 ,  C12Q2537/143 ,  C12Q1/6851 ,  C12Q2531/113 ,  C12Q2535/122 ,  C12Q2537/143 ,  C12Q2563/159

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：US11530454B2

公开(公告)日：2022-12-20

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

公开(公告)号：US11482300B2

公开(公告)日：2022-10-25

申请号：US17494745

申请日：2021-10-05

Applicant: Natera, Inc.

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

IPC: C12Q1/68 ,  G16B20/00 ,  G16B20/20 ,  G16B20/40 ,  G16B20/10 ,  C12Q1/6806 ,  C12Q1/6827 ,  C12Q1/686 ,  C12Q1/6862 ,  C12Q1/6869 ,  C12Q1/6874 ,  C12Q1/6883 ,  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：US11450408B2

公开(公告)日：2022-09-20

申请号：US17494745

申请日：2021-10-05

Applicant: Natera, Inc.

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

IPC: C12Q1/68 ,  G16B20/00 ,  G16B20/20 ,  G16B20/40 ,  G16B20/10 ,  C12Q1/6806 ,  C12Q1/6827 ,  C12Q1/686 ,  C12Q1/6862 ,  C12Q1/6869 ,  C12Q1/6874 ,  C12Q1/6883 ,  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：US11312996B2

公开(公告)日：2022-04-26

申请号：US16747833

申请日：2020-01-21

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 ,  C12Q1/6883 ,  C12Q1/6811 ,  C12Q1/6848 ,  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.