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公开(公告)号:US09334541B2
公开(公告)日:2016-05-10
申请号:US14446232
申请日:2014-07-29
Applicant: Natera, Inc.
Inventor: Matthew Rabinowitz , George Gemelos , Milena Banjevic , Allison Ryan , Zachary Demko , Matthew Hill , Bernhard Zimmermann , Johan Baner
IPC: G01N33/48 , G01N31/00 , G06G7/48 , G06G7/58 , C12Q1/68 , G06F19/12 , G06F19/22 , G06F19/18 , G06F19/00
CPC classification number: C12Q1/6883 , C12Q1/6827 , C12Q1/6869 , C12Q2537/161 , C12Q2537/165 , C12Q2600/112 , C12Q2600/156 , C12Q2600/16 , C12Q2600/172 , G06F19/00 , G06F19/12 , G06F19/18 , G06F19/22 , G06F19/34 , 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:US08949036B2
公开(公告)日:2015-02-03
申请号:US14100928
申请日:2013-12-09
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 , G06F19/00 , G06F19/12 , G06F19/18 , G06F19/22 , G06F19/34 , 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.
Abstract translation: 本公开提供了用于从胎儿母体和胎儿的DNA样品测量的基因型数据以及来自母亲的基因型数据以及任选地还可以从父亲的基因型数据确定胎儿胎儿中染色体的倍性状态的方法 。 通过使用联合分布模型来确定给定父母基因型数据的不同可能胎儿倍性状态的一组预期等位基因分布,并将预期等位基因分布与在混合样品中测量的测量等位基因分布的模式进行比较来确定倍性状态, 并选择其预期等位基因分布模式与观察到的等位基因分布模式最接近的倍性状态。 在一个实施方案中,DNA的混合样品可以以使等位基因偏倚最小化的方式优先富集在多个多态位点。
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公开(公告)号:US20140336060A1
公开(公告)日:2014-11-13
申请号:US14446232
申请日:2014-07-29
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 , G06F19/00 , G06F19/12 , G06F19/18 , G06F19/22 , G06F19/34 , 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:US20140141981A1
公开(公告)日:2014-05-22
申请号:US14171587
申请日:2014-02-03
Applicant: Natera, Inc.
Inventor: Bernhard Zimmermann , Matthew Hill , Philippe Lacroute , Michael Dodd
CPC classification number: C12Q1/6886 , C12N15/1089 , C12Q1/68 , C12Q1/6844 , C12Q1/686 , C12Q1/6876 , C12Q1/6883 , C12Q2600/156 , C12Q2600/16 , G16B5/00 , G16B20/00 , G16B30/00 , G16B40/00
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.
Abstract translation: 本发明提供了在一个反应体积中同时扩增多个核酸区域的方法以及用于选择用于这种扩增方法的引物文库的方法。 本发明还提供具有所需特征的引物文库,例如扩增引物二聚体或其他非靶扩增子的最小形成。
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公开(公告)号:US12234509B2
公开(公告)日:2025-02-25
申请号:US17165592
申请日:2021-02-02
Applicant: Natera, Inc.
Inventor: Solomon Moshkevich , Bernhard Zimmermann , Tudor Pompiliu Constantin , Huseyin Eser Kirkizlar , Allison Ryan , Styrmir Sigurjonsson , Felipe Acosta Archila , Ryan Swenerton
IPC: C12Q1/68 , C12Q1/6851 , C12Q1/6869 , C12Q1/6876
Abstract: The present disclosure provides methods for determining the status of an allograft within a transplant recipient from genotypic data measured from a mixed sample of DNA comprising DNA from both the transplant recipient and from the donor. 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:US12146195B2
公开(公告)日:2024-11-19
申请号:US16092436
申请日:2017-04-17
Applicant: Natera, Inc. , UCL BUSINESS LTD.
Inventor: Bernhard Zimmermann , Tudor Pompiliu Constantin , Raheleh Salari , Huseyin Eser Kirkizlar , Robert Charles Swanton , Mariam Jamal-Hanjani , Christopher Abbosh , Gareth Wilson
IPC: C12Q1/68 , C12Q1/6858 , C12Q1/6886
Abstract: The invention provides methods for detecting single nucleotide variants in lung cancer, especially stage 3a lung adenocarcinoma and lung squamous cell carcinoma. Additional methods and compositions, such as reaction mixtures and solid supports comprising clonal populations of nucleic acids, are provided.
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公开(公告)号:US11525162B2
公开(公告)日:2022-12-13
申请号:US16829133
申请日:2020-03-25
Applicant: Natera, Inc.
Inventor: Matthew Rabinowitz , Matthew Micah Hill , Bernhard Zimmermann , Johan Baner , George Gemelos , Milena Banjevic , Allison Ryan , Styrmir Sigurjonsson , Zachary Demko
IPC: C12Q1/68 , C12Q1/6883 , C12Q1/6811 , C12Q1/6848 , C12Q1/6809 , C12Q1/6851 , C12Q1/6844 , 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:US11519035B2
公开(公告)日:2022-12-06
申请号:US16934407
申请日:2020-07-21
Applicant: Natera, Inc.
Inventor: Matthew Rabinowitz , Matthew Micah Hill , Bernhard Zimmermann , Johan Baner , George Gemelos , Milena Banjevic , Allison Ryan , Styrmir Sigurjonsson , Zachary Demko
IPC: C12Q1/68 , 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:US11486008B2
公开(公告)日:2022-11-01
申请号:US16014961
申请日:2018-06-21
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 , G06N20/00 , G16B15/00 , G16B25/00 , G16B40/00 , G16B40/20 , G16B20/10 , G16B20/00 , G16B20/20 , G16H50/20 , G06N7/00 , G16H10/40 , G06F19/00 , 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:US11459615B2
公开(公告)日:2022-10-04
申请号:US16829133
申请日:2020-03-25
Applicant: Natera, Inc.
Inventor: Matthew Rabinowitz , Matthew Micah Hill , Bernhard Zimmermann , Johan Baner , George Gemelos , Milena Banjevic , Allison Ryan , Styrmir Sigurjonsson , Zachary Demko
IPC: C12Q1/68 , C12Q1/6883 , C12Q1/6811 , C12Q1/6848 , C12Q1/6809 , C12Q1/6851 , C12Q1/6844 , 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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