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公开(公告)号：US11180802B2
公开(公告)日：2021-11-23
申请号：US16803782
申请日：2020-02-27
Applicant: Natera, Inc.
Inventor： Matthew Rabinowitz , George Gemelos , Milena Banjevic , Allison Ryan , Zachary Demko , Matthew Hill , Bernhard Zimmermann , Johan Baner
IPC: C12Q1/68 , C12Q1/00 , C12Q1/6869 , G16B20/00 , C12Q1/6827 , C12Q1/6862 , C12Q1/686 , G16B20/10 , G16B20/20 , G16B20/40 , C12Q1/6883 , 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：US11098366B2
公开(公告)日：2021-08-24
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：US10174369B2
公开(公告)日：2019-01-08
申请号：US15917383
申请日：2018-03-09
Applicant: Natera, Inc.
Inventor： Matthew Rabinowitz , George Gemelos , Milena Banjevic , Allison Ryan , Zachary Demko
IPC: G01N33/48 , C12Q1/6869 , C12Q1/6827 , G06F19/18 , C12Q1/6883 , C12Q1/6862 , C12Q1/6806 , C12Q1/6874 , G06F19/24
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：US20160371432A1
公开(公告)日：2016-12-22
申请号：US15257836
申请日：2016-09-06
Applicant: Natera, Inc.
Inventor： Matthew Rabinowitz , George Gemelos , Milena Banjevic , Allison Ryan , Joshua Sweetkind-Singer
CPC classification number: G16B40/00 , C12Q1/6827 , C12Q1/6883 , C12Q2600/156 , G16B20/00 , G16B30/00 , C12Q2537/16
Abstract: Disclosed herein is a system and method for making allele calls, and for determining the ploidy state, in one or a small set of cells, or where a limited quantity of genetic data is available. Poorly or incorrectly measured base pairs, missing alleles and missing regions are reconstructed and the haplotypes are determined using expected similarities between the target genome and the knowledge of the genomes of genetically related individuals. In one embodiment, incomplete genetic data from an embryonic cell are reconstructed at a plurality of loci using the genetic data from both parents, and possibly one or more sperm and/or sibling embryos. In another embodiment, the chromosome copy number can be determined using the same input data. In another embodiment, these determinations are made for embryo selection during IVF, for non-invasive prenatal diagnosis, or for making phenotypic predictions.
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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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Patent Agency Ranking
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：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：US20240060124A1
公开(公告)日：2024-02-22
申请号：US18227786
申请日：2023-07-28
Applicant: Natera, Inc.
Inventor： Allison Ryan , Styrmir Sigurjonsson , Milena Banjevic , George Gemelos , Matthew Hill , Johan Baner , Matthew Rabinowitz , Zachary Demko
IPC: C12Q1/6869 , C12Q1/6844 , C12Q1/6876 , G16B10/00
CPC classification number: C12Q1/6869 , C12Q1/6844 , C12Q1/6876 , G16B10/00 , C12Q2600/156
Abstract: Methods for non-invasive prenatal paternity testing are disclosed herein. The method uses genetic measurements made on plasma taken from a pregnant mother, along with genetic measurements of the alleged father, and genetic measurements of the mother, to determine whether or not the alleged father is the biological father of the fetus. This is accomplished by way of an informatics based method that can compare the genetic fingerprint of the fetal DNA found in maternal plasma to the genetic fingerprint of the alleged father.
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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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