公开(公告)号：EP3760732A1

公开(公告)日：2021-01-06

申请号：EP20176652.4

申请日：2011-11-18

申请人： Natera, Inc.

发明人： RABINOWITZ, Matthew ,  GEMELOS, George ,  BANJEVIC, Milena ,  RYAN, Allison ,  DEMKO, Zachary ,  HILL, Matthew ,  ZIMMERMANN, Bernhard ,  BANER, Johan

IPC分类号： C12Q1/68

摘要： 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.

公开(公告)号：EP2656263A2

公开(公告)日：2013-10-30

申请号：EP11851621.0

申请日：2011-12-22

申请人： Natera, Inc.

发明人： RYAN, Allison ,  SIGURJONSSON, Styrmir ,  BANJEVIC, Milena ,  GEMELOS, George ,  HILL, Matthew ,  BANER, Johan ,  RABINOWITZ, Matthew ,  DEMKO, Zachary

IPC分类号： G06F19/00 ,  C07H21/04

摘要： 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.

公开(公告)号：EP3760730A1

公开(公告)日：2021-01-06

申请号：EP20176621.9

申请日：2011-11-18

申请人： Natera, Inc.

发明人： GEMELOS, George ,  BANJEVIC, Milena ,  RYAN, Allison ,  DEMKO, Zachary ,  HILL, Matthew ,  ZIMMERMANN, Bernhard ,  BANER, Johan

IPC分类号： C12Q1/68

摘要： 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.

公开(公告)号：EP2656263B1

公开(公告)日：2019-11-06

申请号：EP11851621.0

申请日：2011-12-22

申请人： Natera, Inc.

发明人： RYAN, Allison ,  SIGURJONSSON, Styrmir ,  BANJEVIC, Milena ,  GEMELOS, George ,  HILL, Matthew ,  BANER, Johan ,  RABINOWITZ, Matthew ,  DEMKO, Zachary

IPC分类号： G16B10/00 ,  C12Q1/68

公开(公告)号：EP2673729B1

公开(公告)日：2018-10-17

申请号：EP11858061.2

申请日：2011-11-18

申请人： Natera, Inc.

发明人： RABINOWITZ, Matthew ,  GEMELOS, George ,  BANJEVIC, Milena ,  RYAN, Allison ,  DEMKO, Zachary ,  HILL, Matthew ,  ZIMMERMANN, Bernhard ,  BANER, Johan

IPC分类号： G06F19/18 ,  G06F19/22 ,  G01N33/48 ,  C12Q1/68 ,  G06F19/00

CPC分类号： C12Q1/6883 ,  C12Q1/6827 ,  C12Q1/686 ,  C12Q1/6869 ,  C12Q2600/156 ,  C12Q2600/16 ,  G06F19/00 ,  G06F19/18 ,  G06F19/34 ,  C12Q2537/161 ,  C12Q2537/165 ,  C12Q2537/143

摘要： The invention provides methods for determining the ploidy status of a chromosome in a gestating fetus from genotypic data measured from a mixed sample of DNA from the mother of the fetus and from thefetus, and from genotypic data optionally from the mother and 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. 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.

公开(公告)号：EP2893060A1

公开(公告)日：2015-07-15

申请号：EP13835916.1

申请日：2013-09-04

申请人： Natera, Inc.

发明人： MHATRE, Ravi ,  BANER, Johan ,  ZIMMERMANN, Bernhard ,  HILL, Matthew ,  DEMKO, Zachary

IPC分类号： C40B20/00

CPC分类号： C12Q1/6883 ,  A23D9/00

摘要： The invention provides methods of increasing the fetal fraction in maternal blood and plasma. This increase in fetal fraction improves the accuracy and decreases the "no call" rate for prenatal testing that measures fetal DNA in maternal blood.

公开(公告)号：EP3187597B1

公开(公告)日：2020-06-03

申请号：EP17150875.7

申请日：2011-11-18

申请人： Natera, Inc.

发明人： RABINOWITZ, Matthew ,  GEMELOS, George ,  BANJEVIC, Milena ,  RYAN, Allison ,  DEMKO, Zachary ,  HILL, Matthew ,  ZIMMERMANN, Bernhard ,  BANER, Johan

IPC分类号： C12Q1/6827 ,  C12Q1/6883 ,  C12Q1/6869 ,  C12Q1/686

公开(公告)号：EP2885445A1

公开(公告)日：2015-06-24

申请号：EP13829596.9

申请日：2013-08-15

申请人： Natera, Inc.

发明人： PROSEN, Dennis ,  BANER, Johan ,  HUNKAPILLER, Nathan ,  HILL, Matthew ,  ZIMMERMANN, Bernhard

IPC分类号： C40B40/06 ,  C40B40/08 ,  C40B30/04 ,  C12P19/34 ,  C07H21/04

CPC分类号： C12Q1/6855 ,  C12N15/1093 ,  C12Q2535/122 ,  C12Q2525/186 ,  C12Q2525/191

摘要： Embodiments include methods, compositions, and kits for creating genetic libraries useful for massively parallel genetic sequencing. Some embodiments are directed to methods of preventing the contamination of genetic libraries with material generated during the formation of other genetic libraries. In some embodiments, the methods employ adapters comprising universal priming sites. The methods can employ non-ligatable primers to generate non-ligatable amplification products so as to prevent unwanted ligation to adapters. In some embodiments, the non-ligatable primers contain uracil. Genetic material can be treated with uracil N glycosylase to prevent the unwanted ligation of uracil containing amplicons to adapters used for creating a second genetic library.

公开(公告)号：EP3760731A1

公开(公告)日：2021-01-06

申请号：EP20176629.2

申请日：2011-11-18

申请人： Natera, Inc.

发明人： RABINOWITZ, Matthew ,  GEMELOS, George ,  BANJEVIC, Milena ,  RYAN, Allison ,  DEMKO, Zachary ,  HILL, Matthew ,  ZIMMERMANN, Bernhard ,  BANER, Johan

IPC分类号： C12Q1/68

摘要： 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.

公开(公告)号：EP3187597A1

公开(公告)日：2017-07-05

申请号：EP17150875.7

申请日：2011-11-18

申请人： Natera, Inc.

发明人： RABINOWITZ, Matthew ,  GEMELOS, George ,  BANJEVIC, Milena ,  RYAN, Allison ,  DEMKO, Zachary ,  HILL, Matthew ,  ZIMMERMANN, Bernhard ,  BANER, Johan

IPC分类号： C12Q1/68

摘要： 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.

摘要翻译： 本公开内容提供用于根据从包含来自胎儿母亲和来自胎儿的DNA的DNA混合样品测量的基因型数据和任选来自母亲的基因型数据测定妊娠胎儿中染色体倍性状态的方法，和 父亲。 通过使用联合分布模型来确定倍性状态，以在给定亲本基因型数据的情况下针对不同的可能的胎儿倍性状态产生多个预期的等位基因分布，并且将预期的等位基因分布与在混合样品中测量的测量的等位基因分布的模式进行比较， 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匹配的倍性状态。 可以以使等位基因偏倚最小化的方式，例如使用大规模多重靶向PCR，使DNA的混合样品优先在多个多态性基因座处富集。