公开(公告)号：US11319596B2

公开(公告)日：2022-05-03

申请号：US16288351

申请日：2019-02-28

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 ,  G16B20/20 ,  G06N20/00 ,  G16B15/00 ,  G16B25/00 ,  G16B40/00 ,  G16B40/20 ,  G16B20/10 ,  G16B20/00 ,  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：US11319595B2

公开(公告)日：2022-05-03

申请号：US15898145

申请日：2018-02-15

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：US11286530B2

公开(公告)日：2022-03-29

申请号：US17196822

申请日：2021-03-09

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

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：US11180802B2

公开(公告)日：2021-11-23

申请号：US16803782

申请日：2020-02-27

Applicant: Natera, Inc.

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

IPC: C12Q1/68 ,  C12Q1/00 ,  C12Q1/6869 ,  G16B20/00 ,  C12Q1/6827 ,  C12Q1/6862 ,  C12Q1/686 ,  G16B20/10 ,  G16B20/20 ,  G16B20/40 ,  C12Q1/6883 ,  C12Q1/6806 ,  C12Q1/6874 ,  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：US11098366B2

公开(公告)日：2021-08-24

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：US11066703B2

公开(公告)日：2021-07-20

申请号：US16418104

申请日：2019-05-21

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：US20190256894A1

公开(公告)日：2019-08-22

申请号：US16400023

申请日：2019-04-30

Applicant: Natera, Inc.

Inventor： Bernhard Zimmermann ,  Matthew Hill ,  Philippe Lacroute ,  Michael Dodd ,  Alexander Wong

IPC: C12Q1/686 ,  C12Q1/6848 ,  C12Q1/6811 ,  C12Q1/6874 ,  C12Q1/6883 ,  C12Q1/68

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：US10316362B2

公开(公告)日：2019-06-11

申请号：US14918544

申请日：2015-10-20

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 ,  C12Q1/6874 ,  C12Q1/6811 ,  C12Q1/6848 ,  C12Q1/6855 ,  C12Q1/6883

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：US20170145474A1

公开(公告)日：2017-05-25

申请号：US15336630

申请日：2016-10-27

Applicant: Natera, Inc.

Inventor： Bernhard Zimmermann ,  Matthew Hill ,  Philippe Lacroute ,  Michael Dodd ,  Alexander Wong

IPC: C12Q1/68

CPC classification number: C12Q1/686 ,  C12Q1/68 ,  C12Q1/6811 ,  C12Q1/6848 ,  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：US20160333416A1

公开(公告)日：2016-11-17

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 ,  G06F19/22

CPC classification number: G06F19/22 ,  C12Q1/6811 ,  C12Q1/6848 ,  C12Q1/6883 ,  C12Q2600/156 ,  C12Q2527/107 ,  C12Q2537/143

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.

Abstract translation: 本发明提供用于检测染色体片段或整个染色体的倍性的方法，系统和计算机可读介质，用于检测单核苷酸变体和检测染色体片段和单核苷酸变体的倍性。 在一些方面，本发明提供了用于检测胎儿胎儿的癌症或染色体异常的方法，系统和计算机可读介质。