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公开(公告)号:US20180073080A1
公开(公告)日:2018-03-15
申请号:US15806047
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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公开(公告)号:US20250027170A1
公开(公告)日:2025-01-23
申请号:US18905714
申请日:2024-10-03
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 , G16B25/20 , G16B40/00 , G16B40/20 , G16H10/40 , G16H50/20 , G16Z99/00
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:US20240158855A1
公开(公告)日:2024-05-16
申请号:US18111804
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: C12Q1/6883 , 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.
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公开(公告)号:US20240068031A1
公开(公告)日:2024-02-29
申请号:US18243593
申请日:2023-09-07
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
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.
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公开(公告)号:US20240062846A1
公开(公告)日:2024-02-22
申请号:US18371373
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:US20230383348A1
公开(公告)日:2023-11-30
申请号:US18126344
申请日:2023-03-24
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 , C12Q1/6811 , C12Q1/6848 , C12Q1/6809 , C12Q1/6851 , C12Q1/6844 , C12Q1/6869 , C12Q1/6855 , C12Q1/6874
CPC classification number: C12Q1/6883 , C12Q1/6811 , C12Q1/6848 , C12Q1/6809 , C12Q1/6851 , C12Q1/6844 , C12Q1/6869 , C12Q1/6855 , 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.
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公开(公告)号:US20230360723A1
公开(公告)日:2023-11-09
申请号:US18227219
申请日:2023-07-27
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:US20220307086A1
公开(公告)日:2022-09-29
申请号:US17685730
申请日:2022-03-03
Applicant: Natera, Inc.
Inventor: Joshua BABIARZ , Tudor Tudor 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 , C12Q1/6844 , C12Q1/6851 , 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:US20220139495A1
公开(公告)日:2022-05-05
申请号:US17573520
申请日:2022-01-11
Applicant: Natera, Inc.
Inventor: Matthew RABINOWITZ , George GEMELOS , Milena BANJEVIC , Allison RYAN , Zachary DEMKO , Matthew HILL , Bernhard ZIMMERMANN , Johan BANER , Styrmir SIGURJONSSON
IPC: G16B20/00 , G16B20/20 , G16B20/40 , G16B20/10 , C12Q1/6806 , C12Q1/6827 , C12Q1/686 , C12Q1/6862 , C12Q1/6869 , C12Q1/6874 , C12Q1/6883
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:US20220025456A1
公开(公告)日:2022-01-27
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: C12Q1/6869 , G16B20/00 , C12Q1/6827 , C12Q1/6862 , C12Q1/686 , G16B20/10 , G16B20/20 , G16B20/40 , C12Q1/6883 , 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.
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