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公开(公告)号:US20190256919A1
公开(公告)日:2019-08-22
申请号:US16399947
申请日:2019-04-30
Applicant: Natera, Inc.
Inventor: Joshua BABIARZ , Tudor Popiliu 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
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.
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公开(公告)号:US20180155776A1
公开(公告)日:2018-06-07
申请号:US15716331
申请日:2017-09-26
Applicant: Natera, Inc.
Inventor: Bernhard ZIMMERMANN , Ryan SWENERTON , Matthew RABINOWITZ , Styrmir SIGURJONSSON , George GEMELOS , Apratim GANGULY , Himanshu SETHI
IPC: C12Q1/68
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.
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公开(公告)号:US20180155775A1
公开(公告)日:2018-06-07
申请号:US15716058
申请日:2017-09-26
Applicant: Natera, Inc.
Inventor: Bernhard ZIMMERMANN , Ryan SWENERTON , Matthew RABINOWITZ , Styrmir SIGURJONSSON , George GEMELOS , Apratim GANGULY , Himanshu SETHI
IPC: C12Q1/68
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.
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公开(公告)号:US20180057885A1
公开(公告)日:2018-03-01
申请号:US15805871
申请日:2017-11-07
Applicant: Natera, Inc.
Inventor: Matthew RABINOWITZ , George GEMELOS , Milena BANJEVIC , Allison RYAN , Zachary DEMKO , Matthew HILL , Bernhard ZIMMERMANN , Johan BANER
CPC classification number: C12Q1/6883 , C12Q1/6827 , C12Q1/6869 , C12Q2537/161 , C12Q2537/165 , C12Q2600/112 , C12Q2600/156 , C12Q2600/16 , C12Q2600/172 , G06F19/34 , G16B5/00 , G16B20/00 , G16B30/00 , G16H50/30
Abstract: The present disclosure provides methods for determining the ploidy status of a chromosome in a gestating fetus from genotypic data measured from a sample of DNA from the mother of the fetus and from the fetus, and from genotypic data from the mother and optionally also from the father. The ploidy state is determined by using a joint distribution model to create a set 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. In an embodiment, the mixed sample of DNA may be preferentially enriched at a plurality of polymorphic loci in a way that minimizes the allelic bias.
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15.
公开(公告)号:US20250034644A1
公开(公告)日:2025-01-30
申请号:US18751165
申请日:2024-06-21
Applicant: Natera, Inc.
Inventor: Matthew RABINOWITZ , Milena BANJEVIC , Zachary DEMKO , David JOHNSON , Dusan KIJACIC , Dimitri PETROV , Joshua SWEETKIND-SINGER , Jing XU
IPC: C12Q1/6883 , C12Q1/6827 , C12Q1/6855 , C12Q1/686 , C12Q1/6869 , C12Q1/6876 , G16B20/00 , G16B25/00 , G16B30/00 , G16B40/00
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.
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公开(公告)号:US20240038328A1
公开(公告)日:2024-02-01
申请号:US18371383
申请日:2023-09-21
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
CPC classification number: G16B20/00 , C12Q1/6827 , C12Q1/6862 , C12Q1/686 , G16B20/10 , G16B20/20 , G16B20/40 , C12Q1/6883 , C12Q1/6869 , 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.
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公开(公告)号:US20230242998A1
公开(公告)日:2023-08-03
申请号:US18111790
申请日:2023-02-20
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: C12Q1/6886 , G06N20/00 , G16B15/00 , G16B25/00 , G16B40/00 , C12Q1/6869 , G16B40/20 , G16B20/10 , G16B20/00 , G16B20/20 , G16Z99/00 , G06N7/01 , G16H50/20 , G16H10/40
CPC classification number: C12Q1/6886 , G06N20/00 , G16B15/00 , G16B25/00 , G16B40/00 , C12Q1/6869 , G16B40/20 , G16B20/10 , G16B20/00 , G16B20/20 , G16Z99/00 , G06N7/01 , G16H50/20 , G16H10/40 , C12Q2539/10 , 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.
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公开(公告)号:US20220356526A1
公开(公告)日:2022-11-10
申请号:US17842118
申请日:2022-06-16
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.
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公开(公告)号:US20220213561A1
公开(公告)日:2022-07-07
申请号:US17692469
申请日:2022-03-11
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: C12Q1/6886 , 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.
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20.
公开(公告)号:US20220195526A1
公开(公告)日:2022-06-23
申请号:US17685785
申请日:2022-03-03
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.
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