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公开(公告)号:US10260096B2
公开(公告)日:2019-04-16
申请号:US15446778
申请日:2017-03-01
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: C12Q1/6848 , C12Q1/6851 , C12Q1/6855 , C12Q1/6876 , C12Q1/6883 , G06N7/00 , G06F19/18 , G06F19/24
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:US11111543B2
公开(公告)日:2021-09-07
申请号:US16803739
申请日:2020-02-27
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 , C12Q1/6855 , C12Q1/686 , 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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公开(公告)号:US10081839B2
公开(公告)日:2018-09-25
申请号:US15413200
申请日:2017-01-23
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: C12Q1/68 , C12Q1/6876
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:US12065703B2
公开(公告)日:2024-08-20
申请号:US18120873
申请日:2023-03-13
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: C12Q1/68 , C12Q1/6806 , C12Q1/6827 , C12Q1/6855 , C12Q1/6869 , C12Q1/6876 , C12Q1/6883 , 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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公开(公告)号:US10392664B2
公开(公告)日:2019-08-27
申请号:US15881488
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: C12Q1/6848 , C12Q1/6851 , C12Q1/6855 , C12Q1/6883 , C12Q1/6876 , G06N7/00 , G16B20/00 , G16B40/00
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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6.
公开(公告)号:US20170175187A1
公开(公告)日:2017-06-22
申请号:US15413200
申请日:2017-01-23
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: C12Q1/68
CPC分类号: C12Q1/6883 , C12Q1/6848 , C12Q1/6851 , C12Q1/6855 , C12Q1/6876 , 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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公开(公告)号:US10083273B2
公开(公告)日:2018-09-25
申请号:US13949212
申请日:2013-07-23
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: C12Q1/68 , G06F19/16 , G06F19/18 , C12Q1/6874 , C12Q1/6855 , G06Q50/22 , G06F19/24
CPC分类号: G16B15/00 , C12Q1/6855 , C12Q1/6874 , G06Q50/22 , G16B20/00 , G16B40/00
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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8.
公开(公告)号:US20170166971A1
公开(公告)日:2017-06-15
申请号:US15446778
申请日:2017-03-01
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
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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公开(公告)号:US11111544B2
公开(公告)日:2021-09-07
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: C12Q1/68 , 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.
公开(公告)号:US20190256912A1
公开(公告)日:2019-08-22
申请号:US16399911
申请日:2019-04-30
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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