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1. 发明申请

US20120183967A1 Method and Compositions for Detection and Enumeration of Genetic Variations 有权
标题翻译：遗传变异检测和计数的方法和组合
公开(公告)号：US20120183967A1
公开(公告)日：2012-07-19
申请号：US13311120
申请日：2011-12-05
申请人： Devin DRESSMAN , Hai YAN , Kenneth W. KINZLER , Bert VOGELSTEIN
发明人： Devin DRESSMAN , Hai YAN , Kenneth W. KINZLER , Bert VOGELSTEIN
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6858 , C07H21/04 , C12N15/1075 , C12Q1/686 , C12Q2565/537 , C12Q2563/149 , C12Q2563/143
摘要： Many areas of biomedical research depend on the analysis of uncommon variations in individual genes or transcripts. Here we describe a method that can quantify such variation at a scale and ease heretofore unattainable. Each DNA molecule in a collection of such molecules is converted into a single particle to which thousands of copies of DNA identical in sequence to the original are bound. This population of beads then corresponds to a one-to-one representation of the starting DNA molecules. Variation within the original population of DNA molecules can then be simply assessed by counting fluorescently-labeled particles via flow cytometry. Millions of individual DNA molecules can be assessed in this fashion with standard laboratory equipment. Moreover, specific variants can be isolated by flow sorting and employed for further experimentation. This approach can be used for the identification and quantification of rare mutations as well as to study variations in gene sequences or transcripts in specific populations or tissues.
摘要翻译：生物医学研究的许多领域取决于对个别基因或转录本中不常见变异的分析。在这里，我们描述一种可以量化这种变化的方法，其规模和容易度迄今为止是无法实现的。将这样的分子的集合中的每个DNA分子转化成单个颗粒，其中与原始序列顺序相同的数千个拷贝的DNA被结合。这种珠子群对应于起始DNA分子的一对一表示。然后可以通过流式细胞术对荧光标记的颗粒进行计数，简单地评估原始DNA分子群体内的变异。可以用标准实验室设备以这种方式评估数百万个单独的DNA分子。此外，可以通过流动分选分离特定的变体并用于进一步的实验。该方法可用于鉴定和定量稀有突变，并研究特定群体或组织中基因序列或转录本的变异。

2. 发明授权

US08048627B2 Method and compositions for detection and enumeration of genetic variations 有权
标题翻译：用于检测和计数遗传变异的方法和组合物
公开(公告)号：US08048627B2
公开(公告)日：2011-11-01
申请号：US10562840
申请日：2004-06-09
申请人： Devin Dressman , Hai Yan , Kenneth W Kinzler , Bert Vogelstein
发明人： Devin Dressman , Hai Yan , Kenneth W Kinzler , Bert Vogelstein
IPC分类号： C12Q1/68 , C12P19/34 , C07H21/02
CPC分类号： C12Q1/6858 , C07H21/04 , C12N15/1075 , C12Q1/686 , C12Q2565/537 , C12Q2563/149 , C12Q2563/143
摘要： Many areas of biomedical research depend on the analysis of uncommon variations in individual genes or transcripts. Here we describe a method that can quantify such variation at a scale and ease heretofore unattainable. Each DNA molecule in a collection of such molecules is converted into a single particle to which thousands of copies of DNA identical in sequence to the original are bound. This population of beads then corresponds to a one-to-one representation of the starting DNA molecules. Variation within the original population of DNA molecules can then be simply assessed by counting fluorescently-labeled particles via flow cytometry. Millions of individual DNA molecules can be assessed in this fashion with standard laboratory equipment. Moreover, specific variants can be isolated by flow sorting and employed for further experimentation. This approach can be used for the identification and quantification of rare mutations as well as to study variations in gene sequences or transcripts in specific populations or tissues.
摘要翻译：生物医学研究的许多领域取决于对个别基因或转录本中不常见变异的分析。在这里，我们描述一种可以量化这种变化的方法，其规模和容易度迄今为止是无法实现的。将这样的分子的集合中的每个DNA分子转化成单个颗粒，其中与原始序列顺序相同的数千个拷贝的DNA被结合。这种珠子群对应于起始DNA分子的一对一表示。然后可以通过流式细胞术对荧光标记的颗粒进行计数，简单地评估原始DNA分子群体内的变异。可以用标准实验室设备以这种方式评估数百万个单独的DNA分子。此外，可以通过流动分选分离特定的变体并用于进一步的实验。该方法可用于鉴定和定量稀有突变，并研究特定群体或组织中基因序列或转录本的变异。

3. 发明申请

US20090286687A1 Method and Compositions for Detection and Enumeration of Genetic Variations 审中-公开
标题翻译：遗传变异检测和计数的方法和组合
公开(公告)号：US20090286687A1
公开(公告)日：2009-11-19
申请号：US12361690
申请日：2009-01-29
申请人： Devin DRESSMAN , Hai Yan , Kenneth Kinzler , Bert Volgelstein
发明人： Devin DRESSMAN , Hai Yan , Kenneth Kinzler , Bert Volgelstein
IPC分类号： C40B20/00
CPC分类号： C12Q1/6858 , C07H21/04 , C12N15/1075 , C12Q1/686 , C12Q2565/537 , C12Q2563/149 , C12Q2563/143
摘要： Many areas of biomedical research depend on the analysis of uncommon variations in individual genes or transcripts. Here we describe a method that can quantify such variation at a scale and ease heretofore unattainable. Each DNA molecule in a collection of such molecules is converted into a single particle to which thousands of copies of DNA identical in sequence to the original are bound. This population of beads then corresponds to a one-to-one representation of the starting DNA molecules. Variation within the original population of DNA molecules can then be simply assessed by counting fluorescently-labeled particles via flow cytometry. Millions of individual DNA molecules can be assessed in this fashion with standard laboratory equipment. Moreover, specific variants can be isolated by flow sorting and employed for further experimentation. This approach can be used for the identification and quantification of rare mutations as well as to study variations in gene sequences or transcripts in specific populations or tissues.
摘要翻译：生物医学研究的许多领域取决于对个别基因或转录本中不常见变异的分析。在这里，我们描述一种可以量化这种变化的方法，其规模和容易度迄今为止是无法实现的。将这样的分子的集合中的每个DNA分子转化成单个颗粒，其中与原始序列顺序相同的数千个拷贝的DNA被结合。这种珠子群对应于起始DNA分子的一对一表示。然后可以通过流式细胞术对荧光标记的颗粒进行计数，简单地评估原始DNA分子群体内的变异。可以用标准实验室设备以这种方式评估数百万个单独的DNA分子。此外，可以通过流动分选分离特定的变体并用于进一步的实验。该方法可用于鉴定和定量稀有突变，并研究特定群体或组织中基因序列或转录本的变异。

4. 发明授权

US09139874B2 Bi-directional sequencing compositions and methods 有权
标题翻译：双向测序组合物和方法
公开(公告)号：US09139874B2
公开(公告)日：2015-09-22
申请号：US13543521
申请日：2012-07-06
申请人： Jason Myers , Zhoutao Chen , Devin Dressman , Theo Nikiforov
发明人： Jason Myers , Zhoutao Chen , Devin Dressman , Theo Nikiforov
IPC分类号： C12P19/34 , C12Q1/68
CPC分类号： C12Q1/6874 , C12Q1/6806 , C12Q1/6869 , C12Q2521/307 , C12Q2521/325 , C12Q2525/125 , C12Q2535/119 , C12Q2565/518
摘要： In some embodiments, methods for obtaining sequence information from a nucleic acid template linked to a support include hybridizing a first primer to a template strand linked to a support, sequencing a portion of the nucleic acid template, thereby forming an extended first primer product that is complementary to a portion of the nucleic acid template. In some embodiments, the method further includes introducing a nick into a portion of the template strand that is hybridized to the extended first primer product, degrading a portion of the template strand from the nick using a degrading agent, where a portion of the extended first primer remains hybridized to an undegraded portion of the template strand, and sequencing at least some of the single-stranded portion of the extended first primer by synthesis.
摘要翻译：在一些实施方案中，从与支持物连接的核酸模板获得序列信息的方法包括将第一引物与连接于载体的模板链杂交，对核酸模板的一部分进行测序，从而形成延伸的第一引物产物，与核酸模板的一部分互补。在一些实施方案中，所述方法还包括将切口引入与延伸的第一引物产物杂交的模板链的一部分中，使用降解剂将模板链的一部分从切口中降解，其中延伸的第一底物引物保留与模板链的未降解部分杂交，并通过合成测序延伸的第一引物的至少一些单链部分。

5. 发明申请

US20130012399A1 SEQUENCING METHODS AND COMPOSITIONS 有权
标题翻译：序列方法和组合
公开(公告)号：US20130012399A1
公开(公告)日：2013-01-10
申请号：US13543521
申请日：2012-07-06
申请人： Jason MYERS , Zhoutao CHEN , Devin DRESSMAN , Theo NIKIFOROV
发明人： Jason MYERS , Zhoutao CHEN , Devin DRESSMAN , Theo NIKIFOROV
IPC分类号： C40B20/00 , C12Q1/68 , G01N27/26
CPC分类号： C12Q1/6874 , C12Q1/6806 , C12Q1/6869 , C12Q2521/307 , C12Q2521/325 , C12Q2525/125 , C12Q2535/119 , C12Q2565/518
摘要： Provided herein are compositions, systems, methods and kits useful for obtaining sequence information from a nucleic acid molecule. In some embodiments, the compositions, systems, methods and kits are useful for sequencing of natural or modified nucleic acids. In some embodiments, the compositions, systems, methods and kits relate to bi-directional sequencing of nucleic acids. In some embodiments, the compositions, systems, methods and kits relate to sequencing of nucleic acids linked to a solid support. In some embodiments, the methods useful for obtaining sequence information from a nucleic acid molecule include label-free or ion-based sequencing methods.
摘要翻译：本文提供了可用于从核酸分子获得序列信息的组合物，系统，方法和试剂盒。在一些实施方案中，组合物，系统，方法和试剂盒可用于测序天然或修饰的核酸。在一些实施方案中，组合物，系统，方法和试剂盒涉及核酸的双向测序。在一些实施方案中，组合物，系统，方法和试剂盒涉及与固体支持物连接的核酸的测序。在一些实施方案中，可用于从核酸分子获得序列信息的方法包括无标记或基于离子的测序方法。

6. 发明授权

US09328343B2 Method and compositions for detection and enumeration of genetic variations 有权
标题翻译：用于检测和计数遗传变异的方法和组合物
公开(公告)号：US09328343B2
公开(公告)日：2016-05-03
申请号：US13311120
申请日：2011-12-05
申请人： Devin Dressman , Hai Yan , Kenneth W Kinzler , Bert Vogelstein
发明人： Devin Dressman , Hai Yan , Kenneth W Kinzler , Bert Vogelstein
IPC分类号： C12Q1/68 , C12N15/10 , C07H21/04
CPC分类号： C12Q1/6858 , C07H21/04 , C12N15/1075 , C12Q1/686 , C12Q2565/537 , C12Q2563/149 , C12Q2563/143
摘要： Many areas of biomedical research depend on the analysis of uncommon variations in individual genes or transcripts. Here we describe a method that can quantify such variation at a scale and ease heretofore unattainable. Each DNA molecule in a collection of such molecules is converted into a single particle to which thousands of copies of DNA identical in sequence to the original are bound. This population of beads then corresponds to a one-to-one representation of the starting DNA molecules. Variation within the original population of DNA molecules can then be simply assessed by counting fluorescently-labeled particles via flow cytometry. Millions of individual DNA molecules can be assessed in this fashion with standard laboratory equipment. Moreover, specific variants can be isolated by flow sorting and employed for further experimentation. This approach can be used for the identification and quantification of rare mutations as well as to study variations in gene sequences or transcripts in specific populations or tissues.
摘要翻译：生物医学研究的许多领域取决于对个别基因或转录本中不常见变异的分析。在这里，我们描述一种可以量化这种变化的方法，其规模和容易度迄今为止是无法实现的。将这样的分子的集合中的每个DNA分子转化成单个颗粒，其中与原始序列顺序相同的数千个拷贝的DNA被结合。这种珠子群对应于起始DNA分子的一对一表示。然后可以通过流式细胞术对荧光标记的颗粒进行计数，简单地评估原始DNA分子群体内的变异。可以用标准实验室设备以这种方式评估数百万个单独的DNA分子。此外，可以通过流动分选分离特定的变体并用于进一步的实验。该方法可用于鉴定和定量稀有突变，并研究特定群体或组织中基因序列或转录本的变异。

7. 发明申请

US20070065823A1 Method and compositions for detection and enumeration of genetic variations 有权
标题翻译：用于检测和计数遗传变异的方法和组合物
公开(公告)号：US20070065823A1
公开(公告)日：2007-03-22
申请号：US10562840
申请日：2004-06-09
申请人： Devin Dressman , Hai Yan , Kenneth Kinzler , Bert Vogelstein
发明人： Devin Dressman , Hai Yan , Kenneth Kinzler , Bert Vogelstein
IPC分类号： C12Q1/68 , C12P19/34 , C12M3/00
CPC分类号： C12Q1/6858 , C07H21/04 , C12N15/1075 , C12Q1/686 , C12Q2565/537 , C12Q2563/149 , C12Q2563/143
摘要： Many areas of biomedical research depend on the analysis of uncommon variations in individual genes or transcripts. Here we describe a method that can quantify such variation at a scale and ease heretofore unattainable. Each DNA molecule in a collection of such molecules is converted into a single particle to which thousands of copies of DNA identical in sequence to the original are bound. This population of beads then corresponds to a one-to-one representation of the starting DNA molecules. Variation within the original population of DNA molecules can then be simply assessed by counting fluorescently-labeled particles via flow cytometry. Millions of individual DNA molecules can be assessed in this fashion with standard laboratory equipment. Moreover, specific variants can be isolated by flow sorting and employed for further experimentation. This approach can be used for the identification and quantification of rare mutations as well as to study variations in gene sequences or transcripts in specific populations or tissues.
摘要翻译：生物医学研究的许多领域取决于对个别基因或转录本中不常见变异的分析。在这里，我们描述一种可以量化这种变化的方法，其规模和容易度迄今为止是无法实现的。将这样的分子的集合中的每个DNA分子转化成单个颗粒，其中与原始序列顺序相同的数千个拷贝的DNA被结合。这种珠子群对应于起始DNA分子的一对一表示。然后可以通过流式细胞术对荧光标记的颗粒进行计数，简单地评估原始DNA分子群体内的变异。可以用标准实验室设备以这种方式评估数百万个单独的DNA分子。此外，可以通过流动分选分离特定的变体并用于进一步的实验。该方法可用于鉴定和定量稀有突变，并研究特定群体或组织中基因序列或转录本的变异。

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