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1. 发明申请

WO2019126313A1 MULTIPLEX 5MC MARKER BARCODE COUNTING FOR METHYLATION DETECTION IN CELL-FREE DNA 审中-公开
公开(公告)号：WO2019126313A1
公开(公告)日：2019-06-27
申请号：PCT/US2018/066485
申请日：2018-12-19
申请人： THE UNIVERSITY OF CHICAGO
发明人： HE, Chuan , NIE, Ji
IPC分类号： C12Q1/68 , C12Q1/6883 , C12Q1/6886
CPC分类号： C12Q1/6827 , C12Q1/68 , C12Q1/6883 , C12Q1/6886 , C12Q2521/501 , C12Q2523/125 , C12Q2525/161 , C12Q2563/179
摘要： Described herein is a multiplex 5mC marker barcode counting (MMBC) to quantify 5mC markers in DNA, in which multiple 5mC markers could be targeted for capture and linear amplification. The inventors' method provides highly sensitive and specific quantification of multiple 5mC loci. Accordingly, aspects of the disclosure relate to a method for detecting methylated or unmethylated cytosines in one or more regions of target nucleic acids, the method comprising i) combining a solution comprising the target nucleic acids with a deaminating agent to convert unmethylated cytosines in the target nucleic acids to uracils; ii) next contacting the solution with at least two probes under conditions that allow for the hybridization of the two probes to one target nucleic acid region; wherein a terminal end from each probe hybridizes adjacently to the target nucleic acid region; iii) contacting the solution comprising the hybridized probes and target nucleic acids with a ligase under conditions that allow for the ligation of the terminal ends of the adjacently hybridized probes; and iv) detecting the adjacently hybridized ligated probes in the solution.

2. 发明申请

WO2018071522A1 RAPID AMPLIFICATION OF NUCLEIC ACIDS 审中-公开
标题翻译：快速扩增核酸
公开(公告)号：WO2018071522A1
公开(公告)日：2018-04-19
申请号：PCT/US2017/056113
申请日：2017-10-11
申请人： LIFE TECHNOLOGIES CORPORATION
发明人： LIGHT, David , CHEN, Shann-Ching , DHINGRA, Dalia , TOM, Warren , ROSENBAUM, Abraham , SEEGER, Collyn , THWAR, Prasanna
IPC分类号： C12Q1/68 , C12Q1/6853 , C12Q1/6865
CPC分类号： C12Q1/6846 , C12Q1/6853 , C12Q1/6865 , C12Q2525/149 , C12Q2563/149 , C12Q2565/537 , C12Q2525/191 , C12Q2525/161
摘要： In some embodiments, the disclosure relates generally to methods, and related compositions, systems, kits and apparatuses, for conducting a stream-lined nucleic acid library preparation workflow that generally includes binding a polynucleotide (from an initial nucleic acid sample) directly to capture primers that are immobilized on a support (e.g., beads or flowcell), and amplifying the bound polynucleotide to produce a support that carries a substantially monoclonal population of the polynucleotide (or a portion thereof). The support that carries the substantially monoclonal population of the polynucleotide can be generated, using the present teachings, without performing a separate adaptor-joining step and is ready for sequencing.
摘要翻译：在一些实施方案中，本公开内容一般涉及用于进行流线型核酸文库制备工作流程的方法和相关组合物，系统，试剂盒和设备，其通常包括结合多核苷酸（来自初始核酸样品）直接捕获固定在载体（例如珠或流动池）上的引物，并扩增结合的多核苷酸以产生携带基本上单克隆群体的多核苷酸（或其一部分）的载体。使用本发明的教导，可以产生携带基本上单克隆的多核苷酸群体的支持物，而无需执行单独的衔接子连接步骤并准备好测序。

3. 发明申请

WO2018017949A1 QUANTITATIVE MASSIVELY PARALLEL PROTEOMICS 审中-公开
标题翻译：定量的大规模并行蛋白质组学研究
公开(公告)号：WO2018017949A1
公开(公告)日：2018-01-25
申请号：PCT/US2017/043273
申请日：2017-07-21
申请人： VERILY LIFE SCIENCES LLC
发明人： PEIKON, Ian , TONG, Gary , LIU, Daniel , CHU, Ci
IPC分类号： G01N33/58 , C12Q1/68
CPC分类号： G01N33/6845 , C12Q1/6804 , G01N33/58 , G01N2458/10 , G01N2570/00 , C12Q2525/161 , C12Q2563/159 , C12Q2563/179 , C12Q2565/514 , C12Q2563/131 , C12Q2563/149
摘要： Provided herein are compositions and methods for the identification of an expression profile in a single cell or population of cells. Kits for use with the disclosed methods are also provided, including antibodies, with a unique molecular identifier and antibody identifier, and primers for amplification of the antibody identifier sequence.
摘要翻译：本文提供了用于鉴定单个细胞或细胞群体中的表达谱的组合物和方法。还提供了与所公开的方法一起使用的试剂盒，包括具有独特分子标识符和抗体鉴定物的抗体，以及用于扩增抗体鉴定物序列的引物。

4. 发明申请

WO2017139672A1 METHOD OF DIRECT TARGET SEQUENCING USING NUCLEASE PROTECTION 审中-公开
标题翻译：用核酸酶保护直接靶序列的方法
公开(公告)号：WO2017139672A1
公开(公告)日：2017-08-17
申请号：PCT/US2017/017512
申请日：2017-02-10
申请人： HTG MOLECULAR DIAGNOSTICS, INC.
发明人： THOMPSON, Debrah , ROUNSEVILLE, Matthew
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6806 , C12Q1/6869 , C12Q2521/325 , C12Q2521/501 , C12Q2521/531 , C12Q2525/155 , C12Q2525/161 , C12Q2525/191 , C12Q2525/207 , C12Q2533/107 , C12Q2535/122 , C12Q2537/143 , C12Q2537/162 , C12Q2563/131 , C12Q2563/149
摘要： The present disclosure provides methods and kits for direct sequencing of nucleic acid targets. Such methods can be used to determine if one or more nucleic acid targets are present in a sample.
摘要翻译：本公开提供了用于核酸靶标的直接测序的方法和试剂盒。这样的方法可用于确定样品中是否存在一种或多种核酸靶标。

5. 发明申请

WO2017072330A2 METHODS FOR IDENTIFICATION OF OLIGONUCLEOTIDES 审中-公开
标题翻译：鉴定寡核苷酸的方法
公开(公告)号：WO2017072330A2
公开(公告)日：2017-05-04
申请号：PCT/EP2016/076148
申请日：2016-10-28
申请人： QUERDENKER APS
发明人： MOELLER, Thorleif
IPC分类号： C12N15/10
CPC分类号： A61J1/10 , A61J1/1475 , A61J1/2024 , A61J1/2031 , A61J1/2093 , C12N15/1068 , C12Q1/6811 , C12Q1/6832 , C12Q2525/205 , C12Q2531/113 , C12Q2537/143 , C12Q2545/114 , C12Q2563/179 , C12Q2525/155 , C12Q2525/161 , C12Q2533/101
摘要： The present invention discloses methods for identification of oligonucleotides by manipulation of the information content a plurality of oligonucleotides. A main object of the methods is the identification of new molecular activity such as new ligands of interest for the development of therapeutics or in the field of nanotechnology.
摘要翻译：本发明公开了通过操纵多个寡核苷酸的信息含量来鉴定寡核苷酸的方法。这些方法的主要目标是识别新的分子活性，例如用于开发治疗剂或纳米技术领域的新兴配体。

6. 发明申请

WO2017068116A1 METHOD FOR GENERATING PROXIMITY PROBES 审中-公开
标题翻译：生成接近度探测器的方法
公开(公告)号：WO2017068116A1
公开(公告)日：2017-04-27
申请号：PCT/EP2016/075360
申请日：2016-10-21
申请人： OLINK PROTEOMICS AB
发明人： FREDRIKSSON, Johan Erik Simon , LUNDBERG, Klas Martin
IPC分类号： C12Q1/68 , G01N33/53
CPC分类号： C12Q1/6804 , C12Q1/6818 , G01N33/53 , C12Q2525/161 , C12Q2563/179 , C12Q2565/101
摘要： The present invention provides a plurality of pairs of proximity probes, each pair being capable of binding to a different target analyte, wherein the first and second proximity probes of each pair of probes comprise universal oligonucleotides conjugated to their analyte binding moieties, and hybridised to the universal oligonucleotides are different tag oligonucleotides comprising universal complement domains common to all tag oligonucleotides and unique domains unique to each tag oligonucleotide, as well as methods for their production.
摘要翻译：本发明提供了多对邻近探针，每对能够结合不同的靶分析物，其中每对探针的第一和第二邻近探针包含与它们共轭的通用寡核苷酸分析物结合部分并且与通用寡核苷酸杂交的是不同的标签寡核苷酸，其包含所有标签寡核苷酸共有的通用互补结构域和每个标签寡核苷酸独有的独特结构域，以及它们的生产方法。

7. 发明申请

WO2017060316A1 A NOVEL METHOD FOR THE PREPARATION OF BAR-CODED PRIMER SETS 审中-公开
标题翻译：一种用于制备条码编码器集的新方法
公开(公告)号：WO2017060316A1
公开(公告)日：2017-04-13
申请号：PCT/EP2016/073816
申请日：2016-10-05
申请人： HELMHOLTZ ZENTRUM MÜNCHEN - DEUTSCHES FORSCHUNGSZENTRUM FÜR GESUNDHEIT UND UMWELT (GMBH)
发明人： DRUKKER, Micha , OPPERER, Florian , KRENDL, Christian , SÖNMEZER, Can
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6806 , C12Q2525/155 , C12Q2525/161 , C12Q2563/179 , C12Q2565/514
摘要： The present invention relates to a method of producing a set of primers suitable for the reverse transcription and/or amplification of a plurality (N) of nucleic acid molecules of interest, wherein for each nucleic acid molecule of interest at least one primer is produced and wherein the primers carry a bar-code, the method comprising the steps of: (a)(i) combining (1 ) a first oligonucleotide, wherein said first oligonucleotide comprises a first bar-code nucleic acid sequence linked at its 3' end to a first adapter nucleic acid sequence with (2) a plurality (N) of second oligonucleotides, wherein each second oligonucleotide comprises the reverse complementary sequence of a forward primer specific for a nucleic acid molecule of interest, wherein said reverse complementary sequence of the forward primer is linked at its 3' end to the reverse complementary sequence of the first adapter nucleic acid sequence; and/or (a)(ii) combining (1 ) a third oligonucleotide, wherein said third oligonucleotide comprises a second bar-code nucleic acid sequence linked at its 3' end to a second adapter nucleic acid sequence with (2) a plurality (N) of fourth oligonucleotides, wherein each fourth oligonucleotide comprises the reverse complementary sequence of a reverse primer specific for said nucleic acid molecule of interest, wherein said reverse complementary sequence of the reverse primer is linked at its 3' end to the reverse complementary sequence of the second adapter nucleic acid sequence; wherein steps (a)(i) and (a)(ii) are carried out under conditions that enable the annealing of the first and second adapter nucleic acid sequences to the respective reverse complementary sequences thereof; (b) extending the oligonucleotides of (a)(i) and (a)(ii) by polymerase-mediated oligonucleotide synthesis; and (c) optionally, removing the second and fourth oligonucleotides. The present invention further relates to methods of producing a plurality (M) of nucleic acid amplification products of interest carrying at least one sample-specific bar-code as well as to a method for multiplex sequencing of a plurality (M) of nucleic acid amplification products of interest from a plurality (X) of samples in a single reaction chamber and identifying the individual sample from which each nucleic acid amplification product is derived. Furthermore, the present invention relates to a target- unspecific bar-code-adapter panel, its use in the methods of the invention as well as a kit comprising same.
摘要翻译：本发明涉及一种生产适用于多个（N）感兴趣的核酸分子的逆转录和/或扩增的引物组的方法，其中对于感兴趣的每个核酸分子产生至少一个引物，其中所述引物携带条形码，所述方法包括以下步骤：（a）（i）组合（1）第一寡核苷酸，其中所述第一寡核苷酸包含在其3'端连接至第3个末端的第一条码核酸序列，具有（2）多个（N）第二寡核苷酸的第一衔接子核酸序列，其中每个第二寡核苷酸包含对于目的核酸分子特异性的正向引物的反向互补序列，其中所述正向引物的所述反向互补序列在其3'末端与第一衔接子核酸序列的反向互补序列连接; 和/或（a）（ii）组合（1）第三寡核苷酸，其中所述第三寡核苷酸包含在其3'端与第二衔接子核酸序列连接的第二条码核酸序列，（2）多个 N）第四寡核苷酸，其中每个第四寡核苷酸包含对所述感兴趣的核酸分子特异性的反向引物的反向互补序列，其中所述反向引物的所述反向互补序列在其3'末端连接到第二衔接子核酸序列; 其中步骤（a）（i）和（a）（ii）在能够使第一和第二衔接子核酸序列退火到相应反向互补序列的条件下进行; （b）通过聚合酶介导的寡核苷酸合成扩展（a）（i）和（a）（ii）的寡核苷酸; 和（c）任选地，除去第二和第四寡核苷酸。本发明还涉及产生多个（M）感兴趣的核酸扩增产物携带至少一个样品特异性条形码的方法以及多个（M）核酸扩增多重测序的方法在单个反应室中来自多个（X）样品的感兴趣的产物，并鉴定从其衍生每个核酸扩增产物的单个样品。此外，本发明涉及目标非特异性条形码适配器面板，其在本发明的方法中的用途以及包含其的试剂盒。

8. 发明申请

WO2017020024A3 SYSTEMS AND METHODS FOR GENETIC ANALYSIS 审中-公开
标题翻译：遗传分析系统与方法
公开(公告)号：WO2017020024A3
公开(公告)日：2017-03-09
申请号：PCT/US2016044915
申请日：2016-07-29
申请人： PROGENITY INC , WANG HENG , MANN TOBIAS , BUIS JEFFREY
发明人： WANG HENG , MANN TOBIAS , BUIS JEFFREY
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6813 , C12Q1/6883 , C12Q2600/156 , C12Q2525/161 , C12Q2525/179 , C12Q2525/197 , C12Q2525/307 , C12Q2537/159 , C12Q2563/179
摘要： Systems and methods for detecting copy number variations, chromosomal abnormalities, exonic deletions or duplications, or other genetic variations using molecular inversion probes and probe capture metrics.
摘要翻译：用于使用分子反转探针和探针捕获度量检测拷贝数变异，染色体异常，外显子缺失或重复或其他遗传变异的系统和方法。

9. 发明申请

WO2016172126A2 EXPERIMENTALLY VALIDATED SETS OF GENE SPECIFIC PRIMERS FOR USE IN MULTIPLEX APPLICATIONS 审中-公开
标题翻译：用于多重应用的基因特异性引物的实验验证集
公开(公告)号：WO2016172126A2
公开(公告)日：2016-10-27
申请号：PCT/US2016/028318
申请日：2016-04-19
申请人： CELLECTA, INC.
发明人： CHENCHIK, Alex
IPC分类号： C12Q1/68 , C12P19/34
CPC分类号： C12Q1/6886 , B01J19/0046 , B01J2219/00599 , B01J2219/00722 , C12Q1/6806 , C12Q2600/106 , C12Q2600/112 , C12Q2600/156 , C12Q2600/158 , C12Q2600/16 , C12Q2525/155 , C12Q2525/161 , C12Q2525/191 , C12Q2525/197 , C12Q2535/122 , C12Q2537/143
摘要： Sets of experimentally validated gene specific primer pairs are provided. Embodiments of the sets include 10 or more gene specific primer pairs of forward and reverse primers. The forward and reverse primers of each primer pair include gene specific primers that are experimentally validated as suitable for use in a multiplex amplification assay. In some instances, each of the forward and reverse primers includes an anchor domain that includes a universal primer binding site. The sets find use in a variety of different applications, including high-throughput sequencing applications.
摘要翻译：提供了一组实验验证的基因特异性引物对。这些组的实施方案包括10个或更多个正向和反向引物的基因特异性引物对。每个引物对的正向引物和反向引物包括实验验证的适用于多重扩增测定的基因特异性引物。在一些情况下，正向和反向引物中的每一个包括包含通用引物结合位点的锚结构域。这些集合可用于各种不同的应用，包括高通量测序应用。

10. 发明申请

WO2016161177A1 COMPOSITIONS AND METHODS FOR TARGET NUCLEIC ACID MOLECULE ENRICHMENT 审中-公开
标题翻译：目标核酸分子增殖的组合物和方法
公开(公告)号：WO2016161177A1
公开(公告)日：2016-10-06
申请号：PCT/US2016/025366
申请日：2016-03-31
申请人： FRED HUTCHINSON CANCER RESEARCH CENTER
发明人： BIELAS, Jason, H., , GREGORY, Mark, T.,
IPC分类号： C12Q1/68 , C12N15/63
CPC分类号： C12Q1/6858 , C12N15/1065 , C12Q1/6827 , C12Q1/6855 , C12Q1/6886 , C12Q2600/156 , C12Q2525/161 , C12Q2525/191 , C12Q2535/122 , C12Q2563/179 , C12Q2565/514
摘要： The present disclosure relates to methods of detecting mutations in a target nucleic acid molecule by amplifying a target sequence to contain adaptor sequences and allowed for the product to be directly sequenced using high throughput DNA sequencing technology.
摘要翻译：本公开涉及通过扩增靶序列以包含衔接子序列并允许使用高通量DNA测序技术直接测序产物来检测靶核酸分子中的突变的方法。

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