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1.发明公开公开(公告)号：US20240301495A1
公开(公告)日：2024-09-12
申请号：US18632703
申请日：2024-04-11
申请人： Natera, Inc.
发明人： MATTHEW RABINOWITZ , Milena BANJEVIC , Zachary DEMKO , David JOHNSON , Dusan KIJACIC , Dimitri PETROV , Joshua SWEETKIND-SINGER , Jing XU
IPC分类号： C12Q1/6883 , C12Q1/6806 , C12Q1/6827 , C12Q1/6855 , C12Q1/6869 , C12Q1/6876 , C12Q1/6886 , G16B20/00 , G16B25/00 , G16B30/00 , G16B40/00
CPC分类号： 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
摘要： 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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2.发明申请公开(公告)号：US20200248264A1
公开(公告)日：2020-08-06
申请号：US16843615
申请日：2020-04-08
申请人： Natera, Inc.
发明人： Matthew RABINOWITZ , Milena BANJEVIC , Zachary DEMKO , David JOHNSON , Dusan KIJACIC , Dimitri PETROV , Joshua SWEETKIND-SINGER , Jing XU
IPC分类号： C12Q1/6883 , G16B30/00 , C12Q1/6827 , C12Q1/6876 , G16B40/00 , G16B25/00 , G16B20/00
摘要： 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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3.发明申请公开(公告)号：US20200232036A1
公开(公告)日：2020-07-23
申请号：US16823127
申请日：2020-03-18
申请人： Natera, Inc.
发明人： Matthew RABINOWITZ , Milena BANJEVIC , Zachary DEMKO , David JOHNSON , Dusan KIJACIC , Dimitri PETROV , Joshua SWEETKIND-SINGER , Jing XU
IPC分类号： C12Q1/6883 , C12Q1/6876 , G16B40/00 , G16B30/00 , G16B25/00 , G16B20/00 , C12Q1/6827
摘要： 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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4.发明申请公开(公告)号：US20180171409A1
公开(公告)日：2018-06-21
申请号：US15887746
申请日：2018-02-02
申请人： Natera, Inc.
发明人： Matthew RABINOWITZ , Milena BANJEVIC , Zachary DEMKO , David JOHNSON , Dusan KIJACIC , Dimitri PETROV , Joshua SWEETKIND-SINGER , Jing XU
IPC分类号： C12Q1/6883 , C12Q1/6851 , G06N7/00 , G06F19/18 , G06F19/24 , C12Q1/6848
CPC分类号： C12Q1/6876 , C12Q1/6848 , C12Q1/6851 , C12Q1/6855 , C12Q1/6883 , C12Q2600/156 , C12Q2600/158 , G06N7/005 , G16B20/00 , G16B40/00 , C12Q2525/155 , C12Q2535/122 , C12Q2537/16
摘要： 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：US20220195526A1
公开(公告)日：2022-06-23
申请号：US17685785
申请日：2022-03-03
申请人： Natera, Inc.
发明人： Matthew RABINOWITZ , Milena BANJEVIC , Zachary DEMKO , David JOHNSON , Dusan KIJACIC , Dimitri PETROV , Joshua SWEETKIND-SINGER , Jing XU
IPC分类号： C12Q1/6883 , C12Q1/6876 , G16B40/00 , G16B30/00 , G16B20/00 , C12Q1/6827 , G16B25/00 , C12Q1/6806 , C12Q1/6869
摘要： 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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6.发明申请公开(公告)号：US20190264280A1
公开(公告)日：2019-08-29
申请号：US16283188
申请日：2019-02-22
申请人： Natera, Inc.
发明人： Matthew RABINOWITZ , Milena BANJEVIC , Zachary DEMKO , David JOHNSON , Dusan KIJACIC , Dimitri PETROV , Joshua SWEETKIND-SINGER , Jing XU
IPC分类号： C12Q1/6876 , G06N7/00 , G16B20/00 , C12Q1/6855 , G16B40/00 , C12Q1/6883 , C12Q1/6851 , C12Q1/6848
摘要： 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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7.发明申请公开(公告)号：US20180300448A1
公开(公告)日：2018-10-18
申请号：US16014903
申请日：2018-06-21
申请人： Natera, Inc.
发明人： Matthew RABINOWITZ , Milena BANJEVIC , Zachary DEMKO , David JOHNSON , Dusan KIJACIC , Dimitri PETROV , Joshua SWEETKIND-SINGER , Jing XU
IPC分类号： G06F19/16 , G06Q50/22 , C12Q1/6855 , G06F19/18 , C12Q1/6874
摘要： 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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8.发明公开公开(公告)号：US20230193387A1
公开(公告)日：2023-06-22
申请号：US17836610
申请日：2022-06-09
申请人： Natera, Inc.
发明人： Matthew RABINOWITZ , Milena BANJEVIC , Zachary DEMKO , David JOHNSON , Dusan KIJACIC , Dimitri PETROV , Joshua SWEETKIND-SINGER , Jing XU
IPC分类号： C12Q1/6883 , C12Q1/6876 , G16B40/00 , G16B30/00 , G16B20/00 , C12Q1/6827 , G16B25/00 , C12Q1/6806 , C12Q1/6869
CPC分类号： C12Q1/6883 , C12Q1/6876 , G16B40/00 , G16B30/00 , G16B20/00 , C12Q1/6827 , G16B25/00 , C12Q1/6806 , C12Q1/6869 , C12Q2600/156 , C12Q2600/158 , C12Q2600/118 , C12Q2537/149 , C12Q2545/114
摘要： 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：US20210155988A1
公开(公告)日：2021-05-27
申请号：US17164599
申请日：2021-02-01
申请人： Natera, Inc.
发明人： Matthew RABINOWITZ , Milena BANJEVIC , Zachary DEMKO , David JOHNSON , Dusan KIJACIC , Dimitri PETROV , Joshua SWEETKIND-SINGER , Jing XU
IPC分类号： C12Q1/6883 , C12Q1/6876 , G16B40/00 , G16B30/00 , G16B20/00 , C12Q1/6827 , G16B25/00 , C12Q1/6806 , C12Q1/6869
摘要： 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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10.发明申请公开(公告)号：US20180155786A1
公开(公告)日：2018-06-07
申请号：US15881384
申请日：2018-01-26
申请人： Natera, Inc.
发明人： Matthew RABINOWITZ , Milena BANJEVIC , Zachary DEMKO , David JOHNSON , Dusan KIJACIC , Dimitri PETROV , Joshua SWEETKIND-SINGER , Jing XU
IPC分类号： C12Q1/6876
CPC分类号： C12Q1/6876 , C12Q1/6848 , C12Q1/6851 , C12Q1/6855 , C12Q1/6883 , C12Q2600/156 , C12Q2600/158 , G06F19/18 , G06F19/24 , G06N7/005 , C12Q2525/155 , C12Q2535/122 , C12Q2537/16
摘要： 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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