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    INTEGRATED SYSTEM FOR NUCLEIC ACID SEQUENCE AND ANALYSIS
    11.
    发明申请
    INTEGRATED SYSTEM FOR NUCLEIC ACID SEQUENCE AND ANALYSIS 审中-公开
    用于核酸序列和分析的集成系统

    公开(公告)号：WO2016196942A1

    公开(公告)日：2016-12-08

    申请号：PCT/US2016/035730

    申请日：2016-06-03

    Applicant: COMPLETE GENOMICS, INC.

    Inventor： BANYAI, William ,  CHERNIKOFF, Daniel ,  ROSENFELD, David ,  OLIPHANT, Arnold

    IPC: C12M1/00 ,  C12M1/34 ,  C12Q1/68

    CPC classification number: C12Q1/6874 ,  G01N35/00722 ,  G01N35/0092 ,  G01N35/0099 ,  G01N2035/0091 ,  C12Q2535/122 ,  C12Q2565/619 ,  C12Q2565/629

    Abstract: An integrated end-to-end system for large-scale, high-quality nucleic acid sequencing having a nucleic acid extraction module, a library preparation module, a nucleic acid sequencing module, and a data analysis module reversibly integrated with one another and having components that are physically loosely-coupled within such system and reversibly integrated for sequence interrogation and analysis. This system is fully automated from sample to data output. A workflow management system is integrated across all system components and provides an intuitive user interface for managing system operations.

    Abstract translation: 用于大规模，高质量核酸测序的集成端到端系统具有核酸提取模块，文库制备模块，核酸测序模块和数据分析模块，其可逆地彼此集成并具有组分 在这种系统中物理松散耦合，并可逆地集成用于序列询问和分析。 该系统从样本到数据输出完全自动化。 工作流管理系统集成在所有系统组件中，并提供用于管理系统操作的直观用户界面。

    DISULFIDE-LINKED REVERSIBLE TERMINATORS
    13.
    发明申请
    DISULFIDE-LINKED REVERSIBLE TERMINATORS 审中-公开
    禁用连接的可逆终端机

    公开(公告)号：WO2016182984A1

    公开(公告)日：2016-11-17

    申请号：PCT/US2016/031416

    申请日：2016-05-09

    Applicant: CENTRILLION TECHNOLOGY HOLDINGS CORPORATION ,  JAIN, Moti ,  HOFF, Kendall ,  MCGALL, Glenn ,  ZHOU, Wei

    Inventor： JAIN, Moti ,  HOFF, Kendall ,  MCGALL, Glenn ,  ZHOU, Wei

    IPC: C07H19/073 ,  C07H19/10 ,  C07H19/173

    CPC classification number: C07H19/10 ,  C07H19/14 ,  C07H19/20 ,  C12Q1/6869 ,  C12Q1/6874 ,  C12Q2525/117 ,  C12Q2525/186 ,  C12Q2535/122

    Abstract: The present disclosure provides methods of sequencing polynucleotides and compounds, compositions useful for sequencing of polynucleotides. The chemical compounds include nucleotides and their analogs which possess a sugar moiety comprising a cleavable chemical group capping the 3'-OH group and a base that is attached to a detectable label through a cleavable linker comprising a disulfide bond. In addition, both the disulfide bond and the cleavable chemical group are cleavable by a chemical reagent. Furthermore, after the disulfide bond is cleaved by the chemical reagent, there is no free thiol group linked to the base of the nucleotides.

    Abstract translation: 本公开提供了对多核苷酸和化合物进行测序的方法，可用于多核苷酸测序的组合物。 化合物包括核苷酸及其类似物，其具有糖部分，其包含可切割的化学基团，其覆盖3'-OH基团，以及通过包含二硫键的可切割接头连接到可检测标记物的碱基。 此外，二硫键和可切割化学基团都可以被化学试剂切割。 此外，二硫键被化学试剂切断后，不存在与核苷酸碱基连接的游离巯基。

    APPLICATIONS OF PLASMA MITOCHONDRIAL DNA ANALYSIS
    16.
    发明申请
    APPLICATIONS OF PLASMA MITOCHONDRIAL DNA ANALYSIS 审中-公开
    等离子体麻醉DNA分析的应用

    公开(公告)号：WO2016112851A1

    公开(公告)日：2016-07-21

    申请号：PCT/CN2016/070786

    申请日：2016-01-13

    Applicant: THE CHINESE UNIVERSITY OF HONG KONG

    Inventor： LO, Yuk-Ming Dennis ,  CHIU, Rossa Wai Kwun ,  CHAN, Kwan Chee ,  JIANG, Peiyong

    IPC: C12Q1/68

    CPC classification number: C12Q1/6874 ,  C12Q1/6869 ,  C12Q1/6883 ,  C12Q1/6886 ,  G06F19/18 ,  G06F19/24 ,  C12Q2537/165

    Abstract: An amount of mitochondrial DNA molecules relative to an amount of nuclear DNA molecules is determined in a biological sample, and the relative amount is used for various purposes, e.g., screening, detection, prognostication or monitoring of various physiological and pathological conditions. As examples, an amount of mitochondrial DNA can be used to estimate a concentration of DNA of a tissue type, such as a fetal DNA concentration, tumor DNA concentration, or a concentration of DNA in the biological sample derived from a non-hematopoietic tissue source. Sequencing techniques can be used to determine a mitochondrial DNA concentration in a sample for an accurate detection of a level of cancer. A level of an auto-immune disease is also determined using a relative amount of mitochondrial DNA molecules compared nuclear DNA molecules.

    Abstract translation: 在生物样品中确定相对于核DNA分子量的线粒体DNA分子的量，并且相对量用于各种目的，例如筛选，检测，预测或监测各种生理和病理状况。 作为实例，可以使用线粒体DNA的量来估计衍生自非造血组织来源的生物样品中组织类型的DNA的浓度，例如胎儿DNA浓度，肿瘤DNA浓度或DNA浓度 。 测序技术可用于确定样品中的线粒体DNA浓度，以准确检测癌症水平。 使用相对量的线粒体DNA分子来比较核DNA分子，也测定了自身免疫疾病的水平。

    MODIFIED OLIGONUCLEOTIDE IMMOBILIZATION ONTO POLYMER SUBSTRATE VIA PHYSISORPTION
    17.
    发明申请
    MODIFIED OLIGONUCLEOTIDE IMMOBILIZATION ONTO POLYMER SUBSTRATE VIA PHYSISORPTION 审中-公开
    通过物理化学改性聚合物基体上的寡核苷酸

    公开(公告)号：WO2016107782A1

    公开(公告)日：2016-07-07

    申请号：PCT/EP2015/080813

    申请日：2015-12-21

    Applicant: KONINKLIJKE PHILIPS N.V.

    Inventor： KUIJPERS, Steven Paulus Lambertus ,  LAMBERTS, Inge ,  FEITSMA, Harma Martine

    IPC: B01J19/00 ,  C12Q1/68 ,  G01N33/543

    CPC classification number: C12Q1/6837 ,  B01J19/0046 ,  B01J2219/00529 ,  B01J2219/00572 ,  B01J2219/00576 ,  B01J2219/00608 ,  B01J2219/0061 ,  B01J2219/0063 ,  B01J2219/00659 ,  B01J2219/00722 ,  C12Q1/6825 ,  C12Q1/6874 ,  G01N33/543 ,  G01N33/54353

    Abstract: Method for immobilization of a labeled oligonucleotide on a non-modified polymer substrate, the method comprising the following steps: a) providing a mixture comprising liquid, and a labeled oligonucleotide b) applying the mixture of step a) on a non-modified polymer substrate, wherein the oligonucleotide is immobilized on the non-modified polymer substrate via physisorption conveyed by the label of the oligonucleotide and wherein the label for immobilization is covalently bound to the oligonucleotide; and microarrays achieved by this method. The invention further relates to the use of a label attached to an oligonucleotide for immobilization of the labeled oligonucleotide on a non-modified polymer substrate by physisorption. Furthermore the invention relates to the use of the microarrays achieved by the method describe herein for assays and diagnostic kits comprising such microarrays.

    Abstract translation: 将标记的寡核苷酸固定在未改性聚合物底物上的方法，该方法包括以下步骤：a）提供包含液体和标记的寡核苷酸的混合物b）将步骤a）的混合物施用于未改性的聚合物底物 其中寡核苷酸通过寡核苷酸标记物传递的物理吸附固定在未改性的聚合物底物上，其中用于固定的标记物与寡核苷酸共价结合; 和通过这种方法实现的微阵列。 本发明还涉及通过物理吸附将附着于寡核苷酸的标记物用于将标记的寡核苷酸固定在未改性的聚合物底物上的用途。 此外，本发明涉及通过本文描述的方法实现的用于包含这种微阵列的测定和诊断试剂盒的微阵列的用途。

    BACKBONE MEDIATED MATE PAIR SEQUENCING
    18.
    发明申请
    BACKBONE MEDIATED MATE PAIR SEQUENCING 审中-公开
    背板介质的配对顺序

    公开(公告)号：WO2016105199A1

    公开(公告)日：2016-06-30

    申请号：PCT/NL2015/050906

    申请日：2015-12-23

    Applicant: KEYGENE N.V.

    Inventor： VAN EIJK, Michael Josephus Theresia

    IPC: C12N15/10 ,  C12N15/64 ,  C12N15/66 ,  C12Q1/68

    CPC classification number: C12Q1/6874 ,  C12N15/10 ,  C12N15/1093 ,  C12N15/64 ,  C12N15/66 ,  C12Q1/68 ,  C12Q1/6806 ,  C12Q1/6809 ,  C12Q1/683 ,  C12Q1/6855 ,  C12Q1/6869 ,  C12Q2521/301 ,  C12Q2522/101 ,  C12Q2525/191 ,  C12Q2563/179 ,  C12Q2525/131 ,  C12Q2525/155 ,  C12Q2535/122

    Abstract: Disclosed is a method suitable for (long-range) mate pair sequencing wherein the mate pairs are located within a certain distance from each other on the same nucleotide sequence. By ligating a DNA fragment into an identifier section -containing backbone, a digestable circularized construct is provided to which adaptors can be ligated after digestion. Amplification yields amplicons that contain a combination of the identifier section with the terminal part of the fragments. The fragments are subsequently mated to each other to obtain a mated pair by identifying the corresponding identifier section in both amplicons. The mated pairs can be used in the construction of genome scaffolds or in the generation of draft genome sequences.

    Abstract translation: 公开了一种适用于（远程）配对对测序的方法，其中配对对位于相同核苷酸序列上彼此一定距离内。 通过将DNA片段连接到含标识符部分的骨架中，提供可消化的环状化构建体，其在消化后可将衔接子连接。 扩增产生包含标识符部分与片段末端部分的组合的扩增子。 随后通过在两个扩增子中识别相应的标识符部分，将片段彼此配对以获得配对对。 配对对可用于构建基因组支架或基因组序列的生成。

    HIGH DATA RATE INTEGRATED CIRCUIT WITH POWER MANAGEMENT
    19.
    发明申请
    HIGH DATA RATE INTEGRATED CIRCUIT WITH POWER MANAGEMENT 审中-公开
    具有电源管理的高数据速率集成电路

    公开(公告)号：WO2016100467A1

    公开(公告)日：2016-06-23

    申请号：PCT/US2015/066023

    申请日：2015-12-16

    Applicant: LIFE TECHNOLOGIES CORPORATION

    Inventor： FIFE, Keith G. ,  YANG, Jungwook

    IPC: G01N27/414

    CPC classification number: C12Q1/6874 ,  G01N27/4145 ,  G01N27/4148 ,  G01N35/00712 ,  G01N35/00871 ,  G01N2035/00881

    Abstract: A sensor device includes a sensor array and a flow cell in fluid communication with the sensor array. Bias circuitry apply bias arrangements to the sensor array to produce sensor data. Peripheral circuitry coupled to the bias circuitry produces streams of data from the sensor array, the peripheral circuitry having an active mode and an idle mode. Logic to switch the peripheral circuitry between the active mode and the idle mode to control power consumption is provided. A temperature sensor may be included, and the logic can operate with feedback to switch between the active mode and the idle mode to maintain the temperature within an operating range.

    Abstract translation: 传感器装置包括传感器阵列和与传感器阵列流体连通的流动池。 偏置电路将偏置装置应用于传感器阵列以产生传感器数据。 耦合到偏置电路的外围电路产生来自传感器阵列的数据流，外围电路具有活动模式和空闲模式。 提供了在活动模式和空闲模式之间切换外围电路以控制功耗的逻辑。 可以包括温度传感器，并且逻辑可以通过反馈来操作，以在活动模式和空闲模式之间切换，以将温度保持在工作范围内。

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