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公开(公告)号:US20250011870A1
公开(公告)日:2025-01-09
申请号:US18733471
申请日:2024-06-04
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
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:US20240368697A1
公开(公告)日:2024-11-07
申请号:US18751158
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:US20240327919A1
公开(公告)日:2024-10-03
申请号:US18747138
申请日:2024-06-18
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
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:US20240318252A1
公开(公告)日:2024-09-26
申请号:US18733659
申请日:2024-06-04
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.
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5.
公开(公告)号:US20240301495A1
公开(公告)日:2024-09-12
申请号:US18632703
申请日:2024-04-11
Applicant: Natera, Inc.
Inventor: MATTHEW RABINOWITZ , Milena BANJEVIC , Zachary DEMKO , David JOHNSON , Dusan KIJACIC , Dimitri PETROV , Joshua SWEETKIND-SINGER , Jing XU
IPC: C12Q1/6883 , C12Q1/6806 , C12Q1/6827 , C12Q1/6855 , C12Q1/6869 , C12Q1/6876 , C12Q1/6886 , G16B20/00 , G16B25/00 , G16B30/00 , G16B40/00
CPC classification number: C12Q1/6883 , C12Q1/6806 , C12Q1/6827 , C12Q1/6855 , C12Q1/6869 , C12Q1/6876 , C12Q1/6886 , G16B20/00 , G16B25/00 , G16B30/00 , G16B40/00 , C12Q2537/149 , C12Q2545/114 , C12Q2600/118 , C12Q2600/156 , C12Q2600/158
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:US20230343411A1
公开(公告)日:2023-10-26
申请号:US18220183
申请日:2023-07-10
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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7.
公开(公告)号:US20200248264A1
公开(公告)日:2020-08-06
申请号:US16843615
申请日:2020-04-08
Applicant: Natera, Inc.
Inventor: Matthew RABINOWITZ , Milena BANJEVIC , Zachary DEMKO , David JOHNSON , Dusan KIJACIC , Dimitri PETROV , Joshua SWEETKIND-SINGER , Jing XU
IPC: C12Q1/6883 , G16B30/00 , C12Q1/6827 , C12Q1/6876 , G16B40/00 , G16B25/00 , G16B20/00
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: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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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:US20240271214A1
公开(公告)日:2024-08-15
申请号:US18620822
申请日:2024-03-28
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
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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