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公开(公告)号：US20110159499A1
公开(公告)日：2011-06-30
申请号：US12954634
申请日：2010-11-25
申请人： Benajamin HINDSON , Serge Saxonov , Phillip Belgrader , Kevin Ness , Michael Lucero , Billy Colston
发明人： Benajamin HINDSON , Serge Saxonov , Phillip Belgrader , Kevin Ness , Michael Lucero , Billy Colston
CPC分类号： C12Q1/6806 , C12Q1/6827 , C12Q2537/157 , C12Q2563/161 , C12Q2533/107 , C12Q2521/319
摘要： This invention provides compositions and methods for detecting differences in copy number of a target polynucleotide. In some cases, the methods and compositions provided herein are useful for diagnosis of fetal genetic abnormalities, when the starting sample is maternal tissue (e.g., blood, plasma). The methods and materials described apply techniques for allowing detection of small, but statistically significant, differences in polynucleotide copy number.
摘要翻译： 本发明提供了用于检测靶多核苷酸拷贝数差异的组合物和方法。 在一些情况下，当起始样品是母体组织（例如血液，血浆）时，本文提供的方法和组合物可用于诊断胎儿遗传异常。 描述的方法和材料适用于允许检测多核苷酸拷贝数的小但统计学上显着的差异的技术。
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公开(公告)号：US20120252015A1
公开(公告)日：2012-10-04
申请号：US13400030
申请日：2012-02-17
申请人： Benjamin Hindson , Serge Saxonov , Philip Belgrader , Kevin Ness , Michael Lucero , Billy Colston , Shawn Paul Hodges , Nicholas J. Heredia , Jeffrey Clark Mellen , Camille Bodley Troup , Paul Wyatt
发明人： Benjamin Hindson , Serge Saxonov , Philip Belgrader , Kevin Ness , Michael Lucero , Billy Colston , Shawn Paul Hodges , Nicholas J. Heredia , Jeffrey Clark Mellen , Camille Bodley Troup , Paul Wyatt
CPC分类号： C12Q1/6883 , C12Q2521/331 , C12Q2523/125 , C12Q2600/154
摘要： The present disclosure provides methods and compositions for detecting polynucleotides in a sample and for quantifying polynucleotide load in a sample. The polynucleotides can be associated with a disease, disorder, or condition. In some applications, methylated DNA is quantified, e.g., in order to determine the load of polynucleotides in a sample. The present disclosure also provides methods and compositions for determining the load of fetal polynucleotides in a biological sample, e.g., the load of fetal polynucleotides (e.g., DNA, RNA) in maternal plasma. The present disclosure provides methods and compositions for detecting cellular processes such as cellular viability, growth rates, and infection rates. This disclosure also provides compositions and methods for detecting differences in copy number of a target polynucleotide. In some embodiments, the methods and compositions provided herein are useful for diagnosis of fetal genetic abnormalities, when the starting sample is maternal tissue (e.g., blood, plasma).
摘要翻译： 本公开提供了用于检测样品中的多核苷酸并用于定量样品中的多核苷酸负载的方法和组合物。 多核苷酸可以与疾病，病症或病症相关。 在一些应用中，例如为了确定样品中多核苷酸的负载量化甲基化DNA。 本公开还提供了用于确定生物样品中胎儿多核苷酸负荷的方法和组合物，例如母体血浆中胎儿多核苷酸（例如DNA，RNA）的负载。 本公开提供了用于检测细胞过程如细胞活力，生长速率和感染率的方法和组合物。 本公开还提供了用于检测靶多核苷酸的拷贝数差异的组合物和方法。 在一些实施方案中，当起始样品是母体组织（例如血液，血浆）时，本文提供的方法和组合物可用于诊断胎儿遗传异常。
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公开(公告)号：US20120322058A1
公开(公告)日：2012-12-20
申请号：US13385277
申请日：2012-02-09
申请人： John Frederick Regan , Serge Saxonov , Mike Lucero , Ben Hindson , Phil Belgrader , Simant Dube , Austin So , Jeffrey Clark Mellen , Nicholas Jack Heredia , Kevin Ness , Bill Colston
发明人： John Frederick Regan , Serge Saxonov , Mike Lucero , Ben Hindson , Phil Belgrader , Simant Dube , Austin So , Jeffrey Clark Mellen , Nicholas Jack Heredia , Kevin Ness , Bill Colston
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , C12Q1/683 , C12Q1/6858 , C12Q2600/158 , C12Q2600/172 , C12Q2537/16 , C12Q2563/159 , C12Q2537/165
摘要： Provided herein are improved methods, compositions, and kits for analysis of nucleic acids. The improved methods, compositions, and kits can enable copy number estimation of a nucleic acid in a sample. Also provided herein are methods, compositions, and kits for determining the linkage of two or more copies of a target nucleic acid in a sample (e.g., whether the two or more copies are on the same chromosome or different chromosomes) or for phasing alleles.
摘要翻译： 本文提供了用于分析核酸的改进的方法，组合物和试剂盒。 改进的方法，组合物和试剂盒可以使得样品中核酸的拷贝数估计可以进行。 本文还提供了用于确定样品中靶核酸的两个或多个拷贝（例如，两个或多个拷贝是位于同一染色体或不同染色体上）或用于定相等位基因的连接的方法，组合物和试剂盒。
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公开(公告)号：US09127312B2
公开(公告)日：2015-09-08
申请号：US13385277
申请日：2012-02-09
申请人： John Frederick Regan , Serge Saxonov , Mike Lucero , Ben Hindson , Phil Belgrader , Simant Dube , Austin So , Jeffrey Clark Mellen , Nicholas Jack Heredia , Kevin Ness , Bill Colston
发明人： John Frederick Regan , Serge Saxonov , Mike Lucero , Ben Hindson , Phil Belgrader , Simant Dube , Austin So , Jeffrey Clark Mellen , Nicholas Jack Heredia , Kevin Ness , Bill Colston
CPC分类号： C12Q1/6883 , C12Q1/683 , C12Q1/6858 , C12Q2600/158 , C12Q2600/172 , C12Q2537/16 , C12Q2563/159 , C12Q2537/165
摘要： Provided herein are improved methods, compositions, and kits for analysis of nucleic acids. The improved methods, compositions, and kits can enable copy number estimation of a nucleic acid in a sample. Also provided herein are methods, compositions, and kits for determining the linkage of two or more copies of a target nucleic acid in a sample (e.g., whether the two or more copies are on the same chromosome or different chromosomes) or for phasing alleles.
摘要翻译： 本文提供了用于分析核酸的改进的方法，组合物和试剂盒。 改进的方法，组合物和试剂盒可以使得样品中核酸的拷贝数估计可以进行。 本文还提供了用于确定样品中靶核酸的两个或多个拷贝（例如，两个或多个拷贝是位于同一染色体或不同染色体上）或用于定相等位基因的连接的方法，组合物和试剂盒。
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公开(公告)号：US09222128B2
公开(公告)日：2015-12-29
申请号：US13424304
申请日：2012-03-19
申请人： Serge Saxonov , Simant Dube , Benjamin J. Hindson , Adam M. McCoy
发明人： Serge Saxonov , Simant Dube , Benjamin J. Hindson , Adam M. McCoy
IPC分类号： G01N33/48 , G01N33/50 , G01N31/00 , C12Q1/68 , G06F19/20 , G06F19/12 , G06F19/18 , G06F17/10 , G06F17/12 , G06F17/11
CPC分类号： C12Q1/686 , C12Q1/6851 , G06F17/10 , G06F17/11 , G06F17/12 , G06F19/12 , G06F19/18 , G06F19/20 , C12Q2537/143 , C12Q2537/165 , C12Q2563/159
摘要： System, including methods, apparatus, and compositions, for performing a multiplexed digital assay on a greater number of targets through combinatorial use of signals.
摘要翻译： 用于通过组合使用信号对更多数量目标进行多路复用数字测定的系统，包括方法，装置和组合物。
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公开(公告)号：US20120329664A1
公开(公告)日：2012-12-27
申请号：US13424304
申请日：2012-03-19
申请人： Serge Saxonov , Simant Dube , Benjamin J. Hindson , Adam M. McCoy
发明人： Serge Saxonov , Simant Dube , Benjamin J. Hindson , Adam M. McCoy
CPC分类号： C12Q1/686 , C12Q1/6851 , G06F17/10 , G06F17/11 , G06F17/12 , G06F19/12 , G06F19/18 , G06F19/20 , C12Q2537/143 , C12Q2537/165 , C12Q2563/159
摘要： System, including methods, apparatus, and compositions, for performing a multiplexed digital assay on a greater number of targets through combinatorial use of signals.
摘要翻译： 用于通过组合使用信号对更多数量目标进行多路复用数字测定的系统，包括方法，装置和组合物。
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公开(公告)号：US20100223281A1
公开(公告)日：2010-09-02
申请号：US12644791
申请日：2009-12-22
申请人： Lawrence Hon , Serge Saxonov , Brian Thomas Naughton , Joanna Louise Mountain , Anne Wojcicki , Linda Avey
发明人： Lawrence Hon , Serge Saxonov , Brian Thomas Naughton , Joanna Louise Mountain , Anne Wojcicki , Linda Avey
IPC分类号： G06F17/30
CPC分类号： G06F19/14 , G06F17/30522 , G06F17/30867 , G06F19/22 , G06F19/28 , G06N5/048
摘要： Determining relative relationship includes receiving recombinable deoxyribonucleic acid (DNA) information of a first user and recombinable DNA information of a second user, determining, based at least in part on the recombinable DNA information of the first user and recombinable DNA information of the second user, a predicted degree of relationship between the first user and the second user, and in the event that the expected degree of relationship between the first user and the second user at least meets the threshold, notifying at least the first user about a relative relationship with the second user.
摘要翻译： 确定相对关系包括接收第一用户的可重复脱氧核糖核酸（DNA）信息和第二用户的可重复DNA信息，至少部分基于第一用户的可重复DNA信息和第二用户的可重复DNA信息， 第一用户和第二用户之间的预测关系程度，并且在第一用户和第二用户之间的预期关系程度至少满足阈值的情况下，至少通知第一用户关于与第 第二个用户
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公开(公告)号：US09864835B2
公开(公告)日：2018-01-09
申请号：US12288026
申请日：2008-10-15
申请人： Linda Avey , Oleksiy Khomenko , Brian Thomas Naughton , Serge Saxonov , Anne Wojcicki , Alexander Wong
发明人： Linda Avey , Oleksiy Khomenko , Brian Thomas Naughton , Serge Saxonov , Anne Wojcicki , Alexander Wong
摘要： Displaying a comparison of genotypic information between relatives is disclosed, including receiving an indication that a first individual is a grandparent, receiving an indication that a second individual is a grandchild of the first individual, comparing the genotypic information of the first individual and the second individual and calculating a similarity score, and displaying an indication of the similarity score graphically using colors.
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公开(公告)号：US08645343B2
公开(公告)日：2014-02-04
申请号：US12583842
申请日：2009-08-25
摘要： Processing genetic data is disclosed, including: receiving two or more genetic data sets for an individual from one or more genetic data sources; merging the genetic data sets from the one or more genetic data sources, including identifying a duplicate SNP between the genetic data sets and determining one or more data values to be stored for the duplicate SNP; and storing a single set of merged genetic data for the individual.
摘要翻译： 公开了处理遗传数据，包括：从一个或多个遗传数据源接收个体的两个或多个遗传数据集; 合并来自所述一个或多个遗传数据源的遗传数据集，包括识别所述遗传数据集之间的重复SNP并确定要存储的重复SNP的一个或多个数据值; 并存储个体的单一合并遗传数据集合。
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公开(公告)号：US08463554B2
公开(公告)日：2013-06-11
申请号：US12644791
申请日：2009-12-22
申请人： Lawrence Hon , Serge Saxonov , Brian Thomas Naughton , Joanna Louise Mountain , Anne Wojcicki , Linda Avey
发明人： Lawrence Hon , Serge Saxonov , Brian Thomas Naughton , Joanna Louise Mountain , Anne Wojcicki , Linda Avey
IPC分类号： G06F7/00
CPC分类号： G06F19/14 , G06F17/30522 , G06F17/30867 , G06F19/22 , G06F19/28 , G06N5/048
摘要： Determining relative relationship includes receiving recombinable deoxyribonucleic acid (DNA) information of a first user and recombinable DNA information of a second user, determining, based at least in part on the recombinable DNA information of the first user and recombinable DNA information of the second user, a predicted degree of relationship between the first user and the second user, and in the event that the expected degree of relationship between the first user and the second user at least meets the threshold, notifying at least the first user about a relative relationship with the second user.
摘要翻译： 确定相对关系包括接收第一用户的可重复脱氧核糖核酸（DNA）信息和第二用户的可重复DNA信息，至少部分基于第一用户的可重复DNA信息和第二用户的可重复DNA信息， 第一用户和第二用户之间的预测关系程度，并且在第一用户和第二用户之间的预期关系程度至少满足阈值的情况下，至少通知第一用户关于与第 第二个用户
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