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公开(公告)号：US07634363B2
公开(公告)日：2009-12-15
申请号：US11608233
申请日：2006-12-07
Applicant: Jing Huang , Keith W. Jones
Inventor： Jing Huang , Keith W. Jones
CPC classification number: G06F19/18 , C12Q2600/156
Abstract: Methods for genotyping polymorphisms using allele specific probes are disclosed. A training set is used to generate a model for each polymorphism to be interrogated. The training set is used to obtain an estimate of the asymmetry between an intensity measurement for a first allele and an intensity measurement for a second allele of the same polymorphism. The intensity measurement obtained for a test sample is adjusted using the estimate of asymmetry prior to using the intensity measurements to make a genotyping call. In preferred embodiments the adjustment is applied to polymorphisms that have a likelihood of being heterozygous that is above a specified threshold.
Abstract translation: 公开了使用等位基因特异性探针进行基因分型多态性的方法。 训练集用于生成要查询的每个多态性的模型。 训练集用于获得第一等位基因的强度测量与相同多态性的第二等位基因的强度测量之间的不对称性的估计。 在使用强度测量进行基因分型调用之前，使用不对称估计来调整测试样品获得的强度测量值。 在优选实施方案中，调整适用于具有高于特定阈值的杂合可能性的多态性。
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公开(公告)号：US08498825B2
公开(公告)日：2013-07-30
申请号：US13167264
申请日：2011-06-23
Applicant: Jing Huang , Keith W. Jones
Inventor： Jing Huang , Keith W. Jones
CPC classification number: G06F19/18 , C12Q2600/156
Abstract: Methods for genotyping polymorphisms using allele specific probes are disclosed. A training set is used to generate a model for each polymorphism to be interrogated. The training set is used to obtain an estimate of the asymmetry between an intensity measurement for a first allele and an intensity measurement for a second allele of the same polymorphism. The intensity measurement obtained for a test sample is adjusted using the estimate of asymmetry prior to using the intensity measurements to make a genotyping call. In preferred embodiments the adjustment is applied to polymorphisms that have a likelihood of being heterozygous that is above a specified threshold.
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公开(公告)号：US20120214704A1
公开(公告)日：2012-08-23
申请号：US13459603
申请日：2012-04-30
Applicant: Jing Huang , Keith W. Jones , Michael H. Shapero
Inventor： Jing Huang , Keith W. Jones , Michael H. Shapero
CPC classification number: G06F19/18 , C12Q1/6827 , C12Q1/6837 , G06F19/20 , C12Q2545/101
Abstract: Methods of identifying allele-specific changes in genomic DNA copy number are disclosed. Methods for identifying homozygous deletions and genetic amplifications are disclosed. An array of probes designed to detect presence or absence of a plurality of different sequences is also disclosed. The probes are designed to hybridize to sequences that are predicted to be present in a reduced complexity sample. The methods may be used to detect copy number changes in cancerous tissue compared to normal tissue. The methods may be used to diagnose cancer and other diseases associated with chromosomal anomalies.
Abstract translation: 公开了确定基因组DNA拷贝数中等位基因特异性变化的方法。 公开了鉴定纯合缺失和遗传扩增的方法。 还公开了一种设计用于检测多个不同序列的存在或不存在的探针阵列。 探针被设计为与预测存在于复杂度降低的样品中的序列杂交。 与正常组织相比，该方法可用于检测癌组织中的拷贝数变化。 该方法可用于诊断与染色体异常相关的癌症和其他疾病。
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公开(公告)号：US07822555B2
公开(公告)日：2010-10-26
申请号：US11295225
申请日：2005-12-05
Applicant: Jing Huang , Keith W. Jones , Michael H. Shapero
Inventor： Jing Huang , Keith W. Jones , Michael H. Shapero
IPC: G06F7/00
CPC classification number: G06F19/18 , C12Q1/6827 , C12Q1/6837 , G06F19/20 , C12Q2545/101
Abstract: Methods of identifying allele-specific changes in genomic DNA copy number are disclosed. Methods for identifying homozygous deletions and genetic amplifications are disclosed. An array of probes designed to detect presence or absence of a plurality of different sequences is also disclosed. The probes are designed to hybridize to sequences that are predicted to be present in a reduced complexity sample. The methods may be used to detect copy number changes in cancerous tissue compared to normal tissue. The methods may be used to diagnose cancer and other diseases associated with chromosomal anomalies.
Abstract translation: 公开了确定基因组DNA拷贝数中等位基因特异性变化的方法。 公开了鉴定纯合缺失和遗传扩增的方法。 还公开了一种设计用于检测多个不同序列的存在或不存在的探针阵列。 探针被设计为与预测存在于复杂度降低的样品中的序列杂交。 与正常组织相比，该方法可用于检测癌组织中的拷贝数变化。 该方法可用于诊断与染色体异常相关的癌症和其他疾病。
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公开(公告)号：US20100144542A1
公开(公告)日：2010-06-10
申请号：US12638939
申请日：2009-12-15
Applicant: Jing Huang , Keith W. Jones
Inventor： Jing Huang , Keith W. Jones
CPC classification number: G06F19/18 , C12Q2600/156
Abstract: Methods for genotyping polymorphisms using allele specific probes are disclosed. A training set is used to generate a model for each polymorphism to be interrogated. The training set is used to obtain an estimate of the asymmetry between an intensity measurement for a first allele and an intensity measurement for a second allele of the same polymorphism. The intensity measurement obtained for a test sample is adjusted using the estimate of asymmetry prior to using the intensity measurements to make a genotyping call. In preferred embodiments the adjustment is applied to polymorphisms that have a likelihood of being heterozygous that is above a specified threshold.
Abstract translation: 公开了使用等位基因特异性探针进行基因分型多态性的方法。 训练集用于生成要查询的每个多态性的模型。 训练集用于获得第一等位基因的强度测量与相同多态性的第二等位基因的强度测量之间的不对称性的估计。 在使用强度测量进行基因分型呼叫之前，使用不对称性的估计来调整测试样品获得的强度测量。 在优选实施方案中，调整适用于具有高于特定阈值的杂合可能性的多态性。
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Patent Agency Ranking
公开(公告)号：US10108777B2
公开(公告)日：2018-10-23
申请号：US13459603
申请日：2012-04-30
Applicant: Jing Huang , Keith W. Jones , Michael H. Shapero
Inventor： Jing Huang , Keith W. Jones , Michael H. Shapero
IPC: G06F19/00 , G06F19/18 , C12Q1/6827 , C12Q1/6837 , G06F19/20
Abstract: Methods of identifying allele-specific changes in genomic DNA copy number are disclosed. Methods for identifying homozygous deletions and genetic amplifications are disclosed. An array of probes designed to detect presence or absence of a plurality of different sequences is also disclosed. The probes are designed to hybridize to sequences that are predicted to be present in a reduced complexity sample. The methods may be used to detect copy number changes in cancerous tissue compared to normal tissue. The methods may be used to diagnose cancer and other diseases associated with chromosomal anomalies.
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公开(公告)号：US08190373B2
公开(公告)日：2012-05-29
申请号：US12902711
申请日：2010-10-12
Applicant: Jing Huang , Keith W. Jones , Michael H. Shapero
Inventor： Jing Huang , Keith W. Jones , Michael H. Shapero
IPC: G06F7/00
CPC classification number: G06F19/18 , C12Q1/6827 , C12Q1/6837 , G06F19/20 , C12Q2545/101
Abstract: Methods of identifying allele-specific changes in genomic DNA copy number are disclosed. Methods for identifying homozygous deletions and genetic amplifications are disclosed. An array of probes designed to detect presence or absence of a plurality of different sequences is also disclosed. The probes are designed to hybridize to sequences that are predicted to be present in a reduced complexity sample. The methods may be used to detect copy number changes in cancerous tissue compared to normal tissue. The methods may be used to diagnose cancer and other diseases associated with chromosomal anomalies.
Abstract translation: 公开了确定基因组DNA拷贝数中等位基因特异性变化的方法。 公开了鉴定纯合缺失和遗传扩增的方法。 还公开了一种设计用于检测多个不同序列的存在或不存在的探针阵列。 探针被设计为与预测存在于复杂度降低的样品中的序列杂交。 与正常组织相比，该方法可用于检测癌组织中的拷贝数变化。 该方法可用于诊断与染色体异常相关的癌症和其他疾病。
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公开(公告)号：US07991564B2
公开(公告)日：2011-08-02
申请号：US12638939
申请日：2009-12-15
Applicant: Jing Huang , Keith W. Jones
Inventor： Jing Huang , Keith W. Jones
CPC classification number: G06F19/18 , C12Q2600/156
Abstract: Methods for genotyping polymorphisms using allele specific probes are disclosed. A training set is used to generate a model for each polymorphism to be interrogated. The training set is used to obtain an estimate of the asymmetry between an intensity measurement for a first allele and an intensity measurement for a second allele of the same polymorphism. The intensity measurement obtained for a test sample is adjusted using the estimate of asymmetry prior to using the intensity measurements to make a genotyping call. In preferred embodiments the adjustment is applied to polymorphisms that have a likelihood of being heterozygous that is above a specified threshold.
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公开(公告)号：US20110251798A1
公开(公告)日：2011-10-13
申请号：US13167264
申请日：2011-06-23
Applicant: Jing Huang , Keith W. Jones
Inventor： Jing Huang , Keith W. Jones
CPC classification number: G06F19/18 , C12Q2600/156
Abstract: Methods for genotyping polymorphisms using allele specific probes are disclosed. A training set is used to generate a model for each polymorphism to be interrogated. The training set is used to obtain an estimate of the asymmetry between an intensity measurement for a first allele and an intensity measurement for a second allele of the same polymorphism. The intensity measurement obtained for a test sample is adjusted using the estimate of asymmetry prior to using the intensity measurements to make a genotyping call. In preferred embodiments the adjustment is applied to polymorphisms that have a likelihood of being heterozygous that is above a specified threshold.
Abstract translation: 公开了使用等位基因特异性探针进行基因分型多态性的方法。 训练集用于生成要查询的每个多态性的模型。 训练集用于获得第一等位基因的强度测量与相同多态性的第二等位基因的强度测量之间的不对称性的估计。 在使用强度测量进行基因分型调用之前，使用不对称估计来调整测试样品获得的强度测量值。 在优选实施方案中，调整适用于具有高于特定阈值的杂合可能性的多态性。
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公开(公告)号：US20110029251A1
公开(公告)日：2011-02-03
申请号：US12902711
申请日：2010-10-12
Applicant: Jing Huang , Keith W. Jones , Michael H. Shapero
Inventor： Jing Huang , Keith W. Jones , Michael H. Shapero
CPC classification number: G06F19/18 , C12Q1/6827 , C12Q1/6837 , G06F19/20 , C12Q2545/101
Abstract: Methods of identifying allele-specific changes in genomic DNA copy number are disclosed. Methods for identifying homozygous deletions and genetic amplifications are disclosed. An array of probes designed to detect presence or absence of a plurality of different sequences is also disclosed. The probes are designed to hybridize to sequences that are predicted to be present in a reduced complexity sample. The methods may be used to detect copy number changes in cancerous tissue compared to normal tissue. The methods may be used to diagnose cancer and other diseases associated with chromosomal anomalies.
Abstract translation: 公开了确定基因组DNA拷贝数中等位基因特异性变化的方法。 公开了鉴定纯合缺失和遗传扩增的方法。 还公开了一种设计用于检测多个不同序列的存在或不存在的探针阵列。 探针被设计为与预测存在于复杂度降低的样品中的序列杂交。 与正常组织相比，该方法可用于检测癌组织中的拷贝数变化。 该方法可用于诊断与染色体异常相关的癌症和其他疾病。
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