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公开(公告)号：US10167509B2
公开(公告)日：2019-01-01
申请号：US14848311
申请日：2015-09-08
发明人： John F. Regan , Serge Saxonov , Michael Y. Lucero , Benjamin J. Hindson , Phillip Belgrader , Simant Dube , Austin P. So , Jeffrey C. Mellen , Nicholas J. Heredia , Kevin D. Ness , Billy W. Colston, Jr.
IPC分类号： C12Q1/68 , C07H21/00 , C12Q1/6883 , C12Q1/683 , C12Q1/6858
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.
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公开(公告)号：US12097495B2
公开(公告)日：2024-09-24
申请号：US17750195
申请日：2022-05-20
发明人： Benjamin J. Hindson , Serge Saxonov , Phillip Belgrader , Kevin D. Ness , Michael Y. Lucero , Billy W. Colston, Jr. , Shawn Paul Hodges , Nicholas J. Heredia , Jeffrey Clark Mellen , Camille Bodley Troup , Paul Wyatt
IPC分类号： B01L3/00 , B01F23/41 , B01F33/3011 , B01F33/81 , B01L9/00 , C12Q1/686 , B01F25/00 , B01F25/23 , B01F33/302 , G01N35/08
CPC分类号： B01L3/50273 , B01F23/41 , B01F33/3011 , B01F33/813 , B01L3/502 , B01L3/502784 , B01L3/52 , B01L9/527 , C12Q1/686 , B01F25/14 , B01F25/23 , B01F33/3021 , B01L3/502761 , B01L2200/025 , B01L2200/0636 , B01L2200/0647 , B01L2200/0673 , B01L2200/14 , B01L2200/16 , B01L2300/0609 , B01L2300/0681 , B01L2300/0816 , B01L2300/0829 , B01L2300/0861 , B01L2400/049 , G01N35/08
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). The methods and materials described apply techniques for allowing detection of small, but statistically significant, differences in polynucleotide copy number.
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公开(公告)号：US20160076099A1
公开(公告)日：2016-03-17
申请号：US14848311
申请日：2015-09-08
发明人： John F. Regan , Serge Saxonov , Michael Y. Lucero , Benjamin J. Hindson , Phillip Belgrader , Simant Dube , Austin P. So , Jeffrey C. Mellen , Nicholas J. Heredia , Kevin D. Ness , Billy W. Colston, Jr.
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在同一染色体上还是在不同染色体上）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：US11499181B2
公开(公告)日：2022-11-15
申请号：US16235996
申请日：2018-12-28
发明人： John F. Regan , Serge Saxonov , Michael Y. Lucero , Benjamin J. Hindson , Phillip Belgrader , Simant Dube , Austin P. So , Jeffrey C. Mellen , Nicholas J. Heredia , Kevin D. Ness , Billy W. Colston, Jr.
IPC分类号： C12Q1/6858 , C12Q1/683 , C12Q1/6883 , C12Q1/6806 , C12Q1/6827 , C12Q1/686
摘要： Method of haplotype analysis. In an exemplary method, an aqueous phase containing nucleic acid may be partitioned into a plurality of discrete volumes. At least one allele sequence may be amplified in the volumes from each of a first polymorphic locus and a second polymorphic locus that exhibit sequence variation in the nucleic acid. At least one measure of co-amplification of allele sequences from both loci in the same volumes may be determined. A haplotype of the first and second loci may be selected based on the at least one measure of co-amplification.
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公开(公告)号：US20190241947A1
公开(公告)日：2019-08-08
申请号：US16235996
申请日：2018-12-28
发明人： John F. Regan , Serge Saxonov , Michael Y. Lucero , Benjamin J. Hindson , Phillip Belgrader , Simant Dube , Austin P. So , Jeffrey C. Mellen , Nicholas J. Heredia , Kevin D. Ness , Billy W. Colston, JR.
IPC分类号： C12Q1/6858 , C12Q1/6806 , C12Q1/686 , C12Q1/6827
CPC分类号： C12Q1/6806 , C12Q1/6827 , C12Q1/683 , C12Q1/6858 , C12Q1/686 , C12Q1/6883 , C12Q2535/125 , C12Q2600/158 , C12Q2600/172 , C12Q2537/16 , C12Q2563/159 , C12Q2537/165
摘要： Method of haplotype analysis. In an exemplary method, an aqueous phase containing nucleic acid may be partitioned into a plurality of discrete volumes. At least one allele sequence may be amplified in the volumes from each of a first polymorphic locus and a second polymorphic locus that exhibit sequence variation in the nucleic acid. At least one measure of co-amplification of allele sequences from both loci in the same volumes may be determined. A haplotype of the first and second loci may be selected based on the at least one measure of co-amplification.
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