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公开(公告)号：US07629164B2
公开(公告)日：2009-12-08
申请号：US10891260
申请日：2004-07-13
申请人： Hajime Matsuzaki , Rui Mei
发明人： Hajime Matsuzaki , Rui Mei
CPC分类号： C12Q1/6883 , C12Q1/6837 , C12Q2600/156
摘要： The invention provides nucleic acid sequences that are complementary, in one embodiment, to a collection of human single nucleotide polymorphisms. The invention provides the sequences in such a way as to make them available for a variety of analyses including genotyping a large number of SNPs in parallel by, for example, allele specific hybridization. The invention also provides a collection of human SNPs that is useful for genetic analysis within and across populations. As such, the invention relates to diverse fields impacted by the nature of genetics, including biology, medicine, and medical diagnostics.
摘要翻译： 本发明提供在一个实施方案中与人单核苷酸多态性的集合互补的核酸序列。 本发明以这样的方式提供了序列，使得它们可用于各种分析，包括通过例如等位基因特异性杂交并行地大量SNP的基因分型。 本发明还提供了可用于群体内和跨群体的遗传分析的人类SNP的集合。 因此，本发明涉及受遗传学性质影响的不同领域，包括生物学，医学和医学诊断。
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公开(公告)号：US20080070796A1
公开(公告)日：2008-03-20
申请号：US11874858
申请日：2007-10-18
申请人： Hajime Matsuzaki , Xing Su , Sean Walsh , Giulia Kennedy , Rui Mei
发明人： Hajime Matsuzaki , Xing Su , Sean Walsh , Giulia Kennedy , Rui Mei
CPC分类号： C12Q1/6806 , C12Q1/6809 , C12Q1/683 , C12Q1/6837 , C12Q1/6844 , C12Q2600/156
摘要： The presently claimed invention provides for novel methods and kits for analyzing a collection of target sequences in a nucleic acid sample. A sample is amplified under conditions that enrich for a subset of fragments that includes a collection of target sequences. The invention further provides for analysis of the above sample by hybridization to an array, which may be specifically designed to interrogate the collection of target sequences for particular characteristics, such as, for example, the presence or absence of one or more polymorphisms.
摘要翻译： 本发明提供了用于分析核酸样品中靶序列的集合的新颖方法和试剂盒。 在富集包括靶序列集合的片段子集的条件下扩增样品。 本发明进一步提供了通过与阵列杂交来分析上述样品，其可以被特别设计成询问用于特定特征的靶序列的收集，例如存在或不存在一个或多个多态性。
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公开(公告)号：US07053206B2
公开(公告)日：2006-05-30
申请号：US10743376
申请日：2003-12-23
申请人： Hajime Matsuzaki , Eric Murphy
发明人： Hajime Matsuzaki , Eric Murphy
CPC分类号： C12Q1/6886 , C12Q1/686 , C12Q1/6876 , C12Q2600/16 , Y10T436/143333 , C12Q2537/143 , C12Q2527/143
摘要： A method is described for predetermining ratios of primer pairs present in a single reaction vessel so as to achieve approximately equimolar yield of products. The ratios are determined as a function of the length of the amplicon and the length of other amplicons being simultaneously tested. The primers may desirably be for p53 gene sequences.
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公开(公告)号：US20050260628A1
公开(公告)日：2005-11-24
申请号：US11075121
申请日：2005-03-07
申请人： Hajime Matsuzaki , Xing Su , Guilia Kennedy
发明人： Hajime Matsuzaki , Xing Su , Guilia Kennedy
CPC分类号： C12Q1/6855 , C12Q2527/143 , C12Q2527/113
摘要： The presently claimed invention provides for novel methods and kits for reducing the complexity of a nucleic acid sample by providing non-gel based methods for size fractionation. In a preferred embodiment, size fractionation can be accomplished by varying conditions or reagents of a PCR reaction to amplify fragments of specific size ranges. The invention further provides for analysis of the above sample by hybridization to an array, which may be specifically designed to interrogate the desired fragments for particular characteristics, such as, for example, the presence or absence of a polymorphism.
摘要翻译： 目前要求保护的发明提供了用于通过提供用于尺寸分级分离的非基于凝胶的方法来降低核酸样品的复杂性的新颖方法和试剂盒。 在优选的实施方案中，大小分级可以通过改变PCR反应的条件或试剂来扩增特定大小范围的片段来实现。 本发明进一步提供了通过与阵列的杂交分析上述样品，所述阵列可被特别设计成询问特定特征的期望片段，例如多态性的存在或不存在。
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公开(公告)号：US08679758B2
公开(公告)日：2014-03-25
申请号：US13568111
申请日：2012-08-06
申请人： Hajime Matsuzaki , Xing Su , Sean Walsh , Giulia Kennedy , Rui Mei
发明人： Hajime Matsuzaki , Xing Su , Sean Walsh , Giulia Kennedy , Rui Mei
CPC分类号： C12Q1/6806 , C12Q1/6809 , C12Q1/683 , C12Q1/6837 , C12Q1/6844 , C12Q2600/156
摘要： The presently claimed invention provides for novel methods and kits for analyzing a collection of target sequences in a nucleic acid sample. A sample is amplified under conditions that enrich for a subset of fragments that includes a collection of target sequences. The invention further provides for analysis of the above sample by hybridization to an array, which may be specifically designed to interrogate the collection of target sequences for particular characteristics, such as, for example, the presence or absence of one or more polymorphisms.
摘要翻译： 本发明提供了用于分析核酸样品中靶序列的集合的新方法和试剂盒。 在富集包括靶序列集合的片段子集的条件下扩增样品。 本发明进一步提供了通过与阵列杂交来分析上述样品，其可以被特别设计成询问用于特定特征的靶序列的收集，例如存在或不存在一个或多个多态性。
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公开(公告)号：US08029999B2
公开(公告)日：2011-10-04
申请号：US11874858
申请日：2007-10-18
申请人： Hajime Matsuzaki , Xing Su , Sean Walsh , Giulia Kennedy , Rui Mei
发明人： Hajime Matsuzaki , Xing Su , Sean Walsh , Giulia Kennedy , Rui Mei
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6806 , C12Q1/6809 , C12Q1/683 , C12Q1/6837 , C12Q1/6844 , C12Q2600/156
摘要： The presently claimed invention provides for novel methods and kits for analyzing a collection of target sequences in a nucleic acid sample. A sample is amplified under conditions that enrich for a subset of fragments that includes a collection of target sequences. The invention further provides for analysis of the above sample by hybridization to an array, which may be specifically designed to interrogate the collection of target sequences for particular characteristics, such as, for example, the presence or absence of one or more polymorphisms.
摘要翻译： 本发明提供了用于分析核酸样品中靶序列的集合的新颖方法和试剂盒。 在富集包括靶序列集合的片段子集的条件下扩增样品。 本发明进一步提供了通过与阵列杂交来分析上述样品，其可以被特别设计成询问用于特定特征的靶序列的收集，例如存在或不存在一个或多个多态性。
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公开(公告)号：US07297778B2
公开(公告)日：2007-11-20
申请号：US10264945
申请日：2002-10-04
申请人： Hajime Matsuzaki , Xing Su , Sean Walsh , Giulia Kennedy , Rui Mei
发明人： Hajime Matsuzaki , Xing Su , Sean Walsh , Giulia Kennedy , Rui Mei
CPC分类号： C12Q1/6806 , C12Q1/6809 , C12Q1/683 , C12Q1/6837 , C12Q1/6844 , C12Q2600/156
摘要： The presently claimed invention provides for novel methods and kits for analyzing a collection of target sequences in a nucleic acid sample. A sample is amplified under conditions that enrich for a subset of fragments that includes a collection of target sequences. The invention further provides for analysis of the above sample by hybridization to an array, which may be specifically designed to interrogate the collection of target sequences for particular characteristics, such as, for example, the presence or absence of one or more polymorphisms.
摘要翻译： 本发明提供了用于分析核酸样品中靶序列的集合的新颖方法和试剂盒。 在富集包括靶序列集合的片段子集的条件下扩增样品。 本发明进一步提供了通过与阵列杂交来分析上述样品，其可以被特别设计成询问用于特定特征的靶序列的收集，例如存在或不存在一个或多个多态性。
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公开(公告)号：US20070048756A1
公开(公告)日：2007-03-01
申请号：US11406880
申请日：2006-04-18
申请人： Rui Mei , Sean Walsh , Hajime Matsuzaki , Michael Shapero , Keith Jones
发明人： Rui Mei , Sean Walsh , Hajime Matsuzaki , Michael Shapero , Keith Jones
CPC分类号： C12Q1/6883 , C12Q1/6837 , C12Q2600/156
摘要： Methods for determining the genotype of more than 400,000 Single Nucleotide Polymorphisms (SNPs) in samples of genomic DNA are provided. A collection of SNPs that may be interrogated by the methods is disclosed in SEQ ID NO: 1-1,074,930. Each sequence is the sequence of a human SNP allele and the 16 bases flanking the SNP on either side. A sequence for each allele is included. In some aspects arrays of probes to interrogate the genotype of a collection of SNPs are disclosed. In preferred aspects the probes are 17 or more contiguous nucleotides from a sequence in SEQ ID NO: 1-1,074,930 or its complement.
摘要翻译： 提供了确定基因组DNA样品中超过400,000个单核苷酸多态性（SNP）基因型的方法。 可以通过该方法询问的SNP的集合在SEQ ID NO：1-1,074,930中公开。 每个序列是人类SNP等位基因的序列，两侧的SNP侧翼的16个碱基。 包括每个等位基因的序列。 在一些方面，公开了询问SNP集合的基因型的探针阵列。 在优选的方面，探针是来自SEQ ID NO：1-1,074,930或其补体中的序列的17个或更多个连续核苷酸。
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公开(公告)号：US20070016382A1
公开(公告)日：2007-01-18
申请号：US11457452
申请日：2006-07-13
申请人： Teresa Webster , Hajime Matsuzaki , Xiaojun Di , Earl Hubbell , Rui Mei , Simon Cawley , Gregory Marcus , Keith Jones
发明人： Teresa Webster , Hajime Matsuzaki , Xiaojun Di , Earl Hubbell , Rui Mei , Simon Cawley , Gregory Marcus , Keith Jones
IPC分类号： G06F19/00
CPC分类号： C12Q1/6837 , B01J2219/00317 , B01J2219/00504 , B01J2219/00527 , B01J2219/00695 , B01J2219/00722 , B01J2219/00725 , G06F19/20 , G06F19/22
摘要： The invention relates to the selection of a collection of relevant single nucleotide polymorphisms across a genome to design a nucleic acid probe array. As such, the invention relates to diverse fields impacted by the nature of genetics, including biology, medicine, and medical diagnostics.
摘要翻译： 本发明涉及跨基因组选择相关单核苷酸多态性集合以设计核酸探针阵列。 因此，本发明涉及受遗传学性质影响的不同领域，包括生物学，医学和医学诊断。
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公开(公告)号：US20060024715A1
公开(公告)日：2006-02-02
申请号：US11175859
申请日：2005-07-05
申请人： Guoying Liu , Simon Cawley , Hajime Matsuzaki , Earl Hubbell , Geoffrey Yang , Teresa Webster , Rui Mei , Xiaojun Di , Richard Chiles
发明人： Guoying Liu , Simon Cawley , Hajime Matsuzaki , Earl Hubbell , Geoffrey Yang , Teresa Webster , Rui Mei , Xiaojun Di , Richard Chiles
CPC分类号： C12Q1/6883 , C12Q2600/156
摘要： Methods, kits and arrays of nucleic acid probes for genotyping large numbers of human SNPs in parallel are provided. A set of more than 100,000 human SNPs, known to be biallelic in at least two populations is provided. Allele specific perfect match probes and genotyping probe sets are provided for each allele of each biallelic SNP in a set of human SNPs that is useful for genetic analysis within and across populations. Probe sets that include perfect match and mismatch probes are provided. The probe sets are suitable for inclusion in an array. The invention provides the SNP and surrounding sequence and provides the sequences in such a way as to make them available for a variety of analyses including genotyping. As such, the invention relates to diverse fields impacted by the nature of genetics, including biology, medicine, and medical diagnostics.
摘要翻译： 提供了用于并行分析大量人类SNP的核酸探针的方法，试剂盒和阵列。 提供了一组超过100,000个人类SNP，已知在至少两个人群中是双向的。 为一组人类SNP中的每个双重性SNP的每个等位基因提供等位基因特异性完全匹配探针和基因分型探针组，其可用于群体内和跨群体的遗传分析。 提供包括完美匹配和不匹配探针的探针组。 探头组适合包含在阵列中。 本发明提供了SNP和周围序列，并提供了这样的序列，使得它们可用于各种分析，包括基因分型。 因此，本发明涉及受遗传学性质影响的不同领域，包括生物学，医学和医学诊断。
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