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    SYSTEMS AND METHODS FOR DETECTION OF GENETIC STRUCTURAL VARIATION USING INTEGRATED ELECTROPHORETIC DNA PURIFICATION
    2.
    发明申请
    SYSTEMS AND METHODS FOR DETECTION OF GENETIC STRUCTURAL VARIATION USING INTEGRATED ELECTROPHORETIC DNA PURIFICATION 审中-公开

    公开(公告)号：WO2018187779A1

    公开(公告)日：2018-10-11

    申请号：PCT/US2018/026603

    申请日：2018-04-06

    Applicant: SAGE SCIENCE, INC.

    Inventor： BOLES, T. Christian

    IPC: G01N27/26 ,  G01N27/28

    Abstract: An electrophoresis cassette may include sample well(s), gel column(s) containing a separation gel, and elution modules arranged adjacent the gel column(s). A sample may be provided to the electrophoresis cassette and high-molecular weight DNA may be isolated from the sample. Single-copy DNA sequences may be cleaved on both sides of a repeat region of the DNA sequences to produce a cleaved sample, which then may be fractionated using gel electrophoresis. DNA fractions may be isolated from consecutive sections of the separation gel and subjected to PCR assays to detect single-copy sequences within the DNA fraction, said single-copy sequence containing repeat expansion sequences. The subjected DNA fractions may be electroeluted into the plurality of elution modules. A size of DNA fractions having the repeat expansion sequences may be determined. It is also determined if that size is above a normal repeat size range.

    SEMI-AUTOMATED RESEARCH INSTRUMENT SYSTEM
    4.
    发明申请
    SEMI-AUTOMATED RESEARCH INSTRUMENT SYSTEM 审中-公开

    公开(公告)号：WO2019136301A1

    公开(公告)日：2019-07-11

    申请号：PCT/US2019/012416

    申请日：2019-01-04

    Applicant: SAGE SCIENCE, INC.

    Inventor： ABRAMS, Ezra S. ,  BARBERA, Todd J. ,  BOLES, T. Christian

    IPC: G01N27/447 ,  C12N15/10 ,  G01N27/453

    Abstract: A cassette for retaining molecules during electrophoresis has a housing with a lane configured therein. The lane has a first elongate edge and a second elongate edge, and an elution module is configured to be received in the late to divide the lane into a first chamber and a second chamber. A first buffer reservoir is positioned adjacent the first elongate edge, and a second buffer reservoir is positioned adjacent the second elongate edge. The first side of the elution module facing the first chamber comprises a porous sterile filtration membrane. The second side of the elution module facing the second chamber comprises an ultrafiltration membrane that has a pore size to retain molecules during electrophoresis.

    WORKFLOWS FOR ENZYMATIC NUCLEIC ACID MODIFICATION
    5.
    发明申请
    WORKFLOWS FOR ENZYMATIC NUCLEIC ACID MODIFICATION 审中-公开
    用于酶促核酸修饰的工作流程

    公开(公告)号：WO2017139669A1

    公开(公告)日：2017-08-17

    申请号：PCT/US2017/017508

    申请日：2017-02-10

    Applicant: SAGE SCIENCE, INC. ,  ABRAMS, Ezra ,  YUN, Danny ,  BOLES, T. Christian

    Inventor： ABRAMS, Ezra ,  YUN, Danny ,  BOLES, T. Christian

    IPC: C12Q1/68 ,  C12N9/00 ,  C12Q1/37 ,  C12N9/76 ,  C12N9/99

    CPC classification number: C12N9/00 ,  C12N9/99 ,  C12Q1/37 ,  C12Q1/68 ,  C12Q1/6806 ,  C12Q2521/501 ,  C12Q2527/127

    Abstract: A nucleic acid sample may be provided, and the sample may be treated by applying a first enzymatic nucleic acid modifying reagent to produce a first nucleic acid solution. A first protease reagent may be applied to the first nucleic acid solution to produce a second nucleic acid solution. The application of the first protease reagent may completely or substantially inactivate the first enzymatic nucleic acid modifying reagent. A first inhibitor reagent may be applied in order to produce a third nucleic acid solution, and the first inhibitor reagent may completely or substantially inactivate the first protease reagent.

    Abstract translation: 可以提供核酸样品，并且可以通过应用第一酶促核酸修饰试剂来处理样品以产生第一核酸溶液。 可以将第一蛋白酶试剂施加至第一核酸溶液以产生第二核酸溶液。 第一种蛋白酶试剂的应用可以完全或基本上使第一种酶促核酸修饰试剂失活。 可以施用第一抑制剂以产生第三核酸溶液，并且第一抑制剂可以完全或基本上使第一蛋白酶试剂失活。

    PREPARATIVE ELECTROPHORETIC METHOD FOR TARGETED PURIFICATION OF GENOMIC DNA FRAGMENTS
    6.
    发明申请
    PREPARATIVE ELECTROPHORETIC METHOD FOR TARGETED PURIFICATION OF GENOMIC DNA FRAGMENTS 审中-公开
    靶向纯化基因组DNA片段的电泳制备方法

    公开(公告)号：WO2017087979A1

    公开(公告)日：2017-05-26

    申请号：PCT/US2016/063190

    申请日：2016-11-21

    Applicant: WASHINGTON UNIVERSITY ,  SAGE SCIENCE, INC. ,  MITRA, Robi David ,  MILBRANDT, Jeffrey ,  ABRAMS, Ezra S. ,  BARBERA, Todd J. ,  BOLES, T. Christian

    Inventor： MITRA, Robi David ,  MILBRANDT, Jeffrey ,  ABRAMS, Ezra S. ,  BARBERA, Todd J. ,  BOLES, T. Christian

    IPC: C07H21/02 ,  C12N15/09 ,  C12N15/10

    CPC classification number: C07H21/02 ,  C12N15/101 ,  G01N27/447

    Abstract: A sample containing particles having high-molecular-weight (HMW) DNA is entrapped in a gel matrix, and the gel matrix is exposed to a lysis reagent configured to release the HMW DNA from the particles. The HMW DNA may be purified by subjecting the gel matrix to an electrophoretic field that removes the HMW DNA from the particles, lysis reagents, and/or other sample constituents, from the gel matrix such that the HMW DNA remains. The gel matrix may be subjected with DNA cleavase reagents configured to cleave at specific DNA sequences within the HMW DNA to liberate defined segments of the DNA as fragments of reduced size. The gel matrix may also be subjected to an electrophoretic field, which moves and separates the DNA fragments from uncleaved DNA of the HMW DNA, which remains substantially immobile. The electrophoretically separated DNA fragments may be isolated from the gel matrix.

    Abstract translation: 将包含具有高分子量（HMW）DNA的颗粒的样品包埋在凝胶基质中，并将凝胶基质暴露于配置为从颗粒释放HMW DNA的裂解试剂。 HMW DNA可以通过使凝胶基质经历从凝胶基质中除去来自颗粒的HMW DNA，裂解试剂和/或其他样品成分的电泳场而被纯化，使得HMW DNA保留。 凝胶基质可以用DNA裂解酶试剂进行处理，该裂解酶被配置为在HMW DNA内的特定DNA序列处裂解以释放DNA的确定的片段作为尺寸减小的片段。 凝胶基质也可以经历电泳场，其移动并分离来自HMW DNA的未切割的DNA的DNA片段，其基本保持不动。 电泳分离的DNA片段可以从凝胶基质中分离出来。

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