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    THIRD GENERATION SEQUENCING ALIGNMENT ALGORITHM
    11.
    发明申请
    THIRD GENERATION SEQUENCING ALIGNMENT ALGORITHM 审中-公开
    第三代序列对齐算法

    公开(公告)号：WO2017139671A1

    公开(公告)日：2017-08-17

    申请号：PCT/US2017/017511

    申请日：2017-02-10

    Applicant: THE BOARD OF TRUSTEES OF THE LELAND STANFORD JUNIOR UNIVERSITY

    Inventor： WONG, Wing H. ,  AFSHAR, Pegah Tootoonchi

    IPC: C12Q1/68 ,  G06F19/28 ,  G06F19/22

    CPC classification number: G06F19/22 ,  C12Q1/6874 ,  G06F19/28 ,  C12Q2535/122

    Abstract: Methods, software, and systems for aligning a read sequence to a reference sequence are disclosed. In certain embodiments, the methods, software, and systems involve determining similarity of distribution of k-mers between a region of the read sequence and a region of the reference sequence in order to determine whether the region of the read sequence maps to the region of the reference sequence.

    Abstract translation: 公开了用于将读取序列与参考序列对齐的方法，软件和系统。 在某些实施方案中，所述方法，软件和系统涉及确定读取序列的区域与参考序列的区域之间k聚体的分布的相似性，以便确定读取序列的区域是否映射到 参考序列。

    SPATIALLY INDEXED TISSUE BIOBANK WITH MICROSCOPIC PHENOTYPE-BASED RETRIEVAL SYSTEM
    13.
    发明申请
    SPATIALLY INDEXED TISSUE BIOBANK WITH MICROSCOPIC PHENOTYPE-BASED RETRIEVAL SYSTEM 审中-公开
    具有显微表型的检索系统的空间诱变组织双库

    公开(公告)号：WO2017100373A2

    公开(公告)日：2017-06-15

    申请号：PCT/US2016/065460

    申请日：2016-12-07

    Applicant: MITRA, Partha, P.

    Inventor： MITRA, Partha, P.

    IPC: C12Q1/00 ,  G06T7/00

    CPC classification number: G06F19/18 ,  C12Q1/6806 ,  C12Q1/6869 ,  G01N1/06 ,  G01N1/286 ,  G01N1/36 ,  G01N2001/2873 ,  G02B21/34 ,  G02B21/367 ,  C12Q2535/122

    Abstract: The invention is directed to a preserved serial set of sequential, iterative, and ordered thin sections of a specimen block, and a catalogue of images taken from one or more sub-series of the set of sections and organized so as to create a three-dimensional profile of the microscopic structures of the specimen block. The serial set of sequential, iterative, and ordered thin sections are prepared from the specimen block by cutting and imaging thin sections of that specimen block so that the thin sections remain strictly in the sequential, iterative, order in which they are cut from the specimen block. A spatial index is created from the catalogued three-dimensional images which is searchable by local content-based image retrieval (LCBIR). The LCBIR query is used to locate, within the three-dimensional index, microscopic structural features, thereby making that portion of the specimen available for further analysis and/or for extraction.

    Abstract translation: 本发明涉及样品块的顺序，迭代和有序薄片段的保存的连续组，以及从该组片段的一个或多个子系列取得的图像目录，以及 组织起来以创建样本块的微观结构的三维轮廓。 连续，迭代和有序薄切片的连续组是通过切割和成像该样本块的薄切片来制备的，以便薄切片保持严格按顺序迭代的顺序从样本切割下来 块。 从编目的三维图像创建空间索引，其可通过基于本地内容的图像检索（LCBIR）进行搜索。 LCBIR查询用于在三维指标内定位微观结构特征，从而使得该部分样本可用于进一步分析和/或提取。

    METHOD FOR CONTROLLED DNA FRAGMENTATION
    15.
    发明申请
    METHOD FOR CONTROLLED DNA FRAGMENTATION 审中-公开
    控制DNA片段化的方法

    公开(公告)号：WO2017087555A1

    公开(公告)日：2017-05-26

    申请号：PCT/US2016/062334

    申请日：2016-11-16

    Applicant: THERMO FISHER SCIENTIFIC BALTICS UAB

    Inventor： UKANIS, Mindaugas ,  LUBYS, Arvydas ,  TAMOŠEVICIUS, Romas ,  GAIDAMAUSKAS, Ervinas

    IPC: C12N15/10 ,  C12Q1/68

    CPC classification number: C12Q1/6874 ,  C12N15/1082 ,  C12N15/1093 ,  C12P19/34 ,  C12Q1/6806 ,  C12Q2535/122 ,  C12Q2521/507

    Abstract: A composition and method for controlled in vitro fragmentation of nucleic acids. A transposase forms catalytically active complexes with a modified transposon end that contains within its end sequence degenerate, apurinic/apyrimidinic sites, nicks, or nucleotide gaps, to fragment or shear a target nucleic acid sample in a controlled process. This method yields desired average nucleic acid fragment sizes. The inventive composition and method may be applied for generation of DNA fragments containing shortened transposon end sequences to facilitate subsequent reactions, for production of asymmetrically tailed DNA fragments, etc.

    Abstract translation: 用于核酸的受控体外片段化的组合物和方法。 转座酶与修饰的转座子末端形成催化活性复合物，所述转座子末端在其末端序列中包含简并，嘌呤/嘧啶位点，缺口或核苷酸缺口，以在受控过程中使目标核酸样品片段化或剪切。 该方法产生期望的平均核酸片段大小。 本发明的组合物和方法可以用于产生含有缩短的转座子末端序列的DNA片段以促进随后的反应，用于产生不对称加尾的DNA片段等。

    CALIBRATION PROBE AND METHOD FOR CALIBRATING AN ELECTRONIC DEVICE
    16.
    发明申请
    CALIBRATION PROBE AND METHOD FOR CALIBRATING AN ELECTRONIC DEVICE 审中-公开
    校准探针和校准电子器件的方法

    公开(公告)号：WO2017084998A1

    公开(公告)日：2017-05-26

    申请号：PCT/EP2016/077540

    申请日：2016-11-14

    Applicant: QIAGEN INSTRUMENTS AG

    Inventor： TIEDTKE, Hans-Jürgen ,  QUINTEL, Harald, Horst ,  BLANDEAU, Rémy

    IPC: G01N21/27 ,  G01N33/58 ,  C12Q1/68 ,  G01N15/10

    CPC classification number: G01N21/278 ,  C12Q1/6869 ,  G01N33/582 ,  G01N2021/6439 ,  C12Q2535/122 ,  C12Q2545/113

    Abstract: Subject of the invention is a calibration probe for calibrating an electronic device, such as a DNA sequencer, for analysing biomolecules by detecting fluorescent signals from a sample probe, wherein the calibration probe comprises a detection area for detection of fluorescent signals with the electronic device during calibration, wherein the detection area comprises at least one fluorescent dye attached thereto, wherein the at least one fluorescent dye is attached to first defined regions of the detection area, whilst not being attached to second defined regions of the detection area. The invention also relates to uses of the calibration probe, methods for calibrating the electronic device and methods for analysing biomolecules by detecting fluorescent signals.

    Abstract translation: 本发明的主题是用于校准诸如DNA测序仪的电子设备以通过检测来自样本探针的荧光信号来分析生物分子的校准探针，其中校准探针包括用于检测的检测区域 其中所述检测区域包含附着于其上的至少一种荧光染料，其中所述至少一种荧光染料附着于所述检测区域的第一限定区域，而未附着于所述检测区域的第二限定区域 检测区域。 本发明还涉及校准探针的用途，校准电子装置的方法和通过检测荧光信号来分析生物分子的方法。

    METHODS FOR GENOME ASSEMBLY, HAPLOTYPE PHASING, AND TARGET INDEPENDENT NUCLEIC ACID DETECTION
    17.
    发明申请
    METHODS FOR GENOME ASSEMBLY, HAPLOTYPE PHASING, AND TARGET INDEPENDENT NUCLEIC ACID DETECTION 审中-公开
    基因组组装，基因分型和靶标独立核酸检测的方法

    公开(公告)号：WO2017070123A1

    公开(公告)日：2017-04-27

    申请号：PCT/US2016/057557

    申请日：2016-10-18

    Applicant: DOVETAIL GENOMICS, LLC

    Inventor： GREEN, Richard E. ,  HARTLEY, Paul

    IPC: C12N15/11 ,  C12Q1/68 ,  C40B40/06

    CPC classification number: C12N15/1065 ,  C12Q1/6806 ,  C12Q1/6809 ,  C12Q1/6869 ,  C12Q1/6874 ,  G06F19/22 ,  G06F19/28 ,  C12Q2521/301 ,  C12Q2523/101 ,  C12Q2535/122

    Abstract: The disclosure provides methods to assemble genomes of eukaryotic or prokaryotic organisms. The disclosure provides methods for haplotype phasing and meta-genomics assemblies. The disclosure provides a streamlined method for accomplishing these tasks, such that intermediates need not be labeled by an affinity label to facilitate binding to a solid surface. The disclosure also provides methods and compositions for the de novo generation of scaffold information, linkage information, and genome information for unknown organisms in heterogeneous metagenomic samples or samples obtained from multiple individuals. Practice of the methods can allow de novo sequencing of entire genomes of uncultured or unidentified organisms in heterogeneous samples, or the determination of linkage information for nucleic acid molecules in samples comprising nucleic acids obtained from multiple individuals.

    Abstract translation: 本公开提供了组装真核或原核生物体的基因组的方法。 本公开提供了用于单体型定相和元基因组组装的方法。 本公开提供了用于完成这些任务的简化方法，使得中间体不需要通过亲和标签来标记以促进与固体表面的结合。 本公开内容还提供用于重新产生异源宏基因组样品或从多个个体获得的样品中未知生物的支架信息，连接信息和基因组信息的方法和组合物。 这些方法的实践可以允许在异质样品中未培养或未鉴定的生物体的全基因组的从头测序，或者确定包含从多个个体获得的核酸的样品中的核酸分子的连接信息。

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