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1. 发明申请

WO2019113577A1 A Multiplexed Method for Detecting DNA Mutations and Copy Number Variations 审中-公开
公开(公告)号：WO2019113577A1
公开(公告)日：2019-06-13
申请号：PCT/US2018/064715
申请日：2018-12-10
申请人： WANG, Yan
发明人： WANG, Yan
IPC分类号： C12Q1/6876
CPC分类号： C12Q1/6869 , C12Q1/6876 , C12Q2535/122 , C12Q2565/101 , C12Q2565/514
摘要： Disclosed is a method for simultaneously detecting a large number of mutations of different target genes with high specificity and sensitivity. It exploits single-molecule clonal amplification techniques, a hybridization-based decoding technique and a primer extension-based detection method to enable simultaneous measurement of hundreds and thousands of mutation DNAs in a sample. Also disclosed is a method for detecting copy number variation with high sensitivity and accuracy. The invention provides a method for efficiently and accurately counting thousands and millions of sequences from a plurality of target regions, enabling detection of copy number variation at the whole genome, the whole chromosome, sub-chromosomes or single gene level.

2. 发明申请

WO2017142989A1 NUCLEIC ACID PREPARATION AND ANALYSIS 审中-公开
标题翻译：核酸的制备和分析
公开(公告)号：WO2017142989A1
公开(公告)日：2017-08-24
申请号：PCT/US2017/018052
申请日：2017-02-16
申请人： ADMERA HEALTH LLC
发明人： HUANG, Jun , KASBEK, Christopher , HU, Guanghui , SONG, Qingxuan
IPC分类号： C12Q1/68 , C12P19/34
CPC分类号： C12P19/34 , C12Q1/6806 , C12Q1/6858 , C12Q2521/501 , C12Q2521/531 , C12Q2525/186 , C12Q2525/205 , C12Q2525/301 , C12Q2535/122 , C12Q2563/179 , C12Q2565/514
摘要： This invention relates to methods and systems for preparing and analyzing nucleic acids.
摘要翻译：本发明涉及用于制备和分析核酸的方法和系统。

3. 发明申请

WO2017127556A1 METHODS AND COMPOSITIONS TO IDENTIFY, QUANTIFY, AND CHARACTERIZE TARGET ANALYTES AND BINDING MOIETIES 审中-公开
标题翻译：确定，量化和表征目标分析和结合年龄的方法和组合物
公开(公告)号：WO2017127556A1
公开(公告)日：2017-07-27
申请号：PCT/US2017/014151
申请日：2017-01-19
申请人： CDI LABORATORIES, INC.
发明人： ZHU, Heng , QIAN, Jiang , PINO, Ignacio
IPC分类号： C12Q1/68 , G01N33/50 , C40B30/04
CPC分类号： C12Q1/68 , C12Q1/6837 , C12Q1/6874 , G01N33/54306 , G01N2458/10 , C12Q2537/125 , C12Q2537/143 , C12Q2563/179 , C12Q2565/514
摘要： Proximity coupling and sequencing methods to screen identify, validate and/or characterize interactions between analytes and binding moieties are disclosed. Also disclosed herein are proximity coupling methods and sequencing methods to determine or quantify levels of target analytes. The disclosed methods can be multiplexed in two dimensions, and can be used to determine the affinity and specificity of each of a plurality of binding moieties for each of a plurality of target analytes. Also disclosed herein are substrates, arrays, and reagents for use in the methods, and methods of their preparation.
摘要翻译：公开了用于筛选鉴定，验证和/或表征分析物和结合部分之间的相互作用的接近偶联和测序方法。本文还公开了确定或定量目标分析物水平的接近偶联方法和测序方法。所公开的方法可以以二维方式多路复用，并且可以用于确定多个靶分析物中的每一个的多个结合部分中的每一个的亲和力和特异性。本文还公开了用于所述方法及其制备方法的底物，阵列和试剂。

4. 发明申请

WO2017120531A1 MULTIPLE BEADS PER DROPLET RESOLUTION 审中-公开
标题翻译：多个珠子每滴子分辨率
公开(公告)号：WO2017120531A1
公开(公告)日：2017-07-13
申请号：PCT/US2017/012618
申请日：2017-01-06
申请人： BIO-RAD LABORATORIES, INC.
发明人： LEBOFSKY, Ronald , HEREDIA, Nicholas
IPC分类号： C12N15/10 , C12Q1/68 , G01N33/53
CPC分类号： B01J19/0046 , B01J2219/00547 , B01J2219/00596 , B01J2219/00722 , C12Q1/6806 , C12Q2525/131 , C12Q2563/149 , C12Q2563/159 , C12Q2565/514 , C12Q2565/519 , C12Q2523/319 , C12Q2535/122
摘要： Methods of generating a nucleic acid signature for identifying particles associated in a partition are provided. In one aspect, the method comprises: partitioning a sample into a plurality of partitions comprising a particle comprising a solid support surface, the solid support surface having a plurality of oligonucleotide primers conjugated thereon, wherein the oligonucleotide primers comprise a barcode sequence, and wherein the partitions have 0, 1, or more than 1 particles per partition; providing in a partition a substrate comprising a barcode sequence or repeating clonal barcode sequences; and in the partition, associating a first particle conjugated to oligonucleotide primers comprising a first barcode sequence and a second particle conjugated to oligonucleotide primers comprising a second barcode sequence to a barcode sequence from the substrate, thereby generating a nucleic acid signature for the particles in the partition.
摘要翻译：提供了产生用于鉴定分区中相关颗粒的核酸标签的方法。在一个方面，该方法包括：将样品分配到包含含有固体支持物表面的颗粒的多个分区中，所述固体支持物表面具有缀合在其上的多个寡核苷酸引物，其中所述寡核苷酸引物包含条形码序列，并且其中所述分区每个分区有0个，1个或多于1个粒子; 在分区中提供包含条形码序列或重复克隆条形码序列的底物; 并且在分区中，将缀合至包含第一条形码序列的寡核苷酸引物的第一颗粒和缀合至包含第二条形码序列的寡核苷酸引物的第二颗粒与来自底物的条形码序列相关联，从而生成核酸序列中的颗粒的核酸特征分区。

5. 发明申请

WO2017019456A3 SPATIAL MAPPING OF NUCLEIC ACID SEQUENCE INFORMATION 审中-公开
标题翻译：核酸序列信息的空间映射
公开(公告)号：WO2017019456A3
公开(公告)日：2017-05-04
申请号：PCT/US2016043385
申请日：2016-07-21
申请人： ILLUMINA INC
发明人： SO ALEX , LIU LI , SHEN MIN-JUI RICHARD , SALATHIA NEERAJ , STEPHENS KATHRYN M , JAGER ANNE , WILSON TIMOTHY , FULLERTON JUSTIN , RAMIREZ SEAN M , KAPLAN SHANNON , PANTOJA RIGO , VENKATESAN BALA MURALI , MODIANO STEVEN
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6874 , C12Q1/6837 , C12Q2565/514 , C12Q2565/543 , C12Q2565/125 , C12Q2563/143 , C12Q2563/155 , C12Q2543/10
摘要： Presented are methods and compositions for spatial detection and analysis of nucleic acids in a tissue sample. The methods can enable the characterization of transcriptomes and/or genomic variations in tissues while preserving spatial information about the tissue.
摘要翻译：提出了用于组织样品中核酸的空间检测和分析的方法和组合物。这些方法可以实现组织中转录组和/或基因组变异的表征，同时保留关于组织的空间信息。

6. 发明申请

WO2017027773A1 METHODS FOR GENERATING POLYMER ARRAYS 审中-公开
标题翻译：生成聚合物阵列的方法
公开(公告)号：WO2017027773A1
公开(公告)日：2017-02-16
申请号：PCT/US2016/046684
申请日：2016-08-12
申请人： CENTRILLION TECHNOLOGY HOLDINGS CORPORATION , POLLOM Jr., Thomas, Scott , ZHOU, Wei
发明人： POLLOM Jr., Thomas, Scott , ZHOU, Wei
IPC分类号： G01N33/545 , C07K1/04 , C12M1/34 , G01N33/50 , G01N33/543
CPC分类号： C12N15/1089 , C12Q1/6834 , C12Q1/6874 , C12Q2565/507 , C12Q2565/513 , C12Q2565/514
摘要： The present disclosure provides a polymer array comprising a plurality of polymers, each of which is immobilized at a distinct locations and differs from adjacent polymers by one and only one subunit. Also provided herein are methods for generating a set of masks which may define strings of synthetic steps for forming polymer arrays on a substrate.
摘要翻译：本公开内容提供了包含多个聚合物的聚合物阵列，其各自固定在不同的位置，并且通过一个且仅一个亚单位与相邻的聚合物不同。本文还提供了用于产生一组掩模的方法，该掩模可以限定用于在基底上形成聚合物阵列的合成步骤的串。

7. 发明申请

WO2016191618A1 METHODS OF INSERTING MOLECULAR BARCODES 审中-公开
标题翻译：插入分子杆的方法
公开(公告)号：WO2016191618A1
公开(公告)日：2016-12-01
申请号：PCT/US2016/034480
申请日：2016-05-26
申请人： ZHENG, Jianbiao , SHI, Changping
发明人： ZHENG, Jianbiao , SHI, Changping
IPC分类号： C07H1/00 , C07H21/00 , C07H21/04 , C12N15/10
CPC分类号： C12N15/1068 , C07H1/00 , C07H21/00 , C07H21/04 , C12N15/1065 , C12N15/1082 , C12Q1/6874 , C12Q2525/191 , C12Q2563/179 , C12Q2565/514
摘要： The present invention provides compositions, methods, and kits for inserting a plurality of synthetic transposons each comprising a different nucleic acid sequence (i.e., molecular barcode) in a target nucleic acid of interest to allow extraction of contiguity information in the target nucleic acid. The molecular barcodes are also useful for reducing amplification or sequencing bias and errors, and for guiding accurate sequence assembly of the target nucleic acid from sequencing reads. The compositions, methods, and kits described herein have many applications, including haplotyping, genome assembly, sequencing of repetitive regions, detection of structural variations and copy number variations, chromosomal conformation analysis, and methylation analysis.
摘要翻译：本发明提供用于将各种包含不同核酸序列（即分子条形码）的多个合成转座子插入目的靶核酸中的组合物，方法和试剂盒，以允许提取靶核酸中的毗连信息。分子条形码也可用于减少扩增或测序偏差和错误，并用于从测序读数引导靶核酸的精确序列组装。本文描述的组合物，方法和试剂盒具有许多应用，包括单倍型，基因组装配，重复区域测序，结构变异和拷贝数变异检测，染色体构象分析和甲基化分析。

8. 发明申请

WO2016176091A1 ERROR SUPPRESSION IN SEQUENCED DNA FRAGMENTS USING REDUNDANT READS WITH UNIQUE MOLECULAR INDICES (UMIS) 审中-公开
标题翻译：使用冗余分析指标（UMIS）的序列DNA片段中的错误抑制
公开(公告)号：WO2016176091A1
公开(公告)日：2016-11-03
申请号：PCT/US2016/028430
申请日：2016-04-20
申请人： ILLUMINA, INC.
发明人： GNERRE, Sante , JUNG, Byoungsok , KOSTEM, Emrah , ARAVANIS, Alex , SO, Alex , CAI, Xuyu , ZHANG, Zhihong
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6869 , C12N15/1065 , C12Q1/6806 , C12Q1/6855 , G06F19/22 , C12Q2525/191 , C12Q2535/119 , C12Q2535/122 , C12Q2563/179 , C12Q2565/514
摘要： The disclosed embodiments concern methods, apparatus, systems and computer program products for determining sequences of interest using unique molecular index (UMI) sequences that are uniquely associable with individual polynucleotide fragments, including sequences with low allele frequencies and long sequence length. In some implementations, the UMIs include both physical (exogenous) UMIs, e.g. introduced using Y-shaped adaptors, and virtual (endogenous) UMIs present in the DNA fragments to be sequenced. In some implementations, the unique molecular index sequences include non-random sequences. System, apparatus, and computer program products are also provided for determining a sequence of interest implementing the methods disclosed.
摘要翻译：所公开的实施例涉及使用与单个多核苷酸片段唯一相关联的独特分子指数（UMI）序列确定感兴趣序列的方法，装置，系统和计算机程序产品，包括具有低等位基因频率和长序列长度的序列。在一些实施方案中，UMI包括物理（外源）UMI，例如。使用Y形衔接子和存在于要测序的DNA片段中的虚拟（内源性）UMI引入。在一些实施方案中，独特的分子索引序列包括非随机序列。还提供了系统，装置和计算机程序产品，用于确定实现所公开方法的感兴趣的顺序。

9. 发明申请

WO2016161081A1 MOLECULAR CHARACTERIZATION OF SINGLE CELLS AND CELL POPULATIONS FOR NON-INVASIVE DIAGNOSTICS 审中-公开
标题翻译：单因素和非小细胞肺癌细胞分子特征分析
公开(公告)号：WO2016161081A1
公开(公告)日：2016-10-06
申请号：PCT/US2016/025208
申请日：2016-03-31
申请人： FLUXION BIOSCIENCES, INC.
发明人： IONESCU-ZANETTI, Cristian , JENSEN, Jeff , SCHWARTZ, Michael
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6869 , C12Q1/6806 , C12Q2563/159 , C12Q2565/514
摘要： The invention discloses diagnostic techniques based on single cell genomics, consisting of obtaining a blood sample, enriching a sub-population of cells present in the blood sample, sequestering individual cells or group of cells from the blood sample, obtaining sequencing data from the sequestered cells or group of cells, using genetic variant information to determine the provenance of the cells, and genetically analyzing the cells of the correct provenance to provide a diagnostic readout. Using the cell-based testing techniques of the invention, the number of false positives is greatly reduced when compared to cell-free DNA (cfDNA) based traditional testing techniques. The invention may be effectively employed for non-invasive prenatal (NIPT) diagnostics, oncological testing and other diagnostic procedures.
摘要翻译：本发明公开了基于单细胞基因组学的诊断技术，其包括获得血液样品，富集存在于血液样品中的细胞亚群，从血液样品中隔离单个细胞或细胞组，从隔离细胞获得测序数据或一组细胞，使用遗传变体信息来确定细胞的来源，以及遗传分析正确来源的细胞以提供诊断读数。使用本发明的基于细胞的测试技术，与基于无细胞DNA（cfDNA）的传统测试技术相比，假阳性数量大大降低。本发明可以有效地用于非侵入性产前（NIPT）诊断，肿瘤检测和其它诊断程序。

10. 发明申请

WO2016145409A1 GENOTYPE AND PHENOTYPE COUPLING 审中-公开
标题翻译：基因型和基因型偶联
公开(公告)号：WO2016145409A1
公开(公告)日：2016-09-15
申请号：PCT/US2016/022201
申请日：2016-03-11
申请人： THE BROAD INSTITUTE, INC. , ECOLE SUPERIEURE DE PHYSIQUE ET DE CHIMIE INDUSTRIELLES DE LA VILLE DE PARIS (ESPCI PARIS TECH)
发明人： NICOL, Robert , GRIFFITHS, Andrew, David , SAUDEMONT, Baptiste , KIRK, Timothy, V.
IPC分类号： C12M1/34 , C12Q1/68 , G01N33/52
CPC分类号： C12N15/1075 , C12Q1/6816 , G01N33/6845 , G01N2458/10 , C12Q2563/159 , C12Q2565/514
摘要： The disclosure provides methods and compositions useful for labeling of target molecules with origin-specific nucleic acid identifiers (for example, barcodes), which can be used subsequently to identify, quantify, or otherwise characterize a feature or activity of target molecules originating from a particular discreet volume. Such target molecules can include polypeptides expressed by cells, in which nucleic acid molecules encoding the polypeptides are labeled with the same, or matched, origin-specific nucleic acid identifiers.
摘要翻译：本公开提供了用于用原产特异性核酸标识符（例如，条形码）标记靶分子的方法和组合物，其可以随后用于鉴定，定量或以其它方式表征源自特定的靶标分子的靶分子的特征或活性谨慎的音量。这样的靶分子可以包括由细胞表达的多肽，其中编码多肽的核酸分子用相同或匹配的起始特异性核酸标识符标记。

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