• Patent Title: SYSTEMS AND METHODS FOR DETECTION OF GENETIC STRUCTURAL VARIATION USING INTEGRATED ELECTROPHORETIC DNA PURIFICATION
  • Application No.: PCT/US2018/026603
    Application Date: 2018-04-06
  • Publication No.: WO2018187779A1
    Publication Date: 2018-10-11
  • Inventor: BOLES, T. Christian
  • Applicant: SAGE SCIENCE, INC.
  • Applicant Address: 500 Cummings Center, Suite 2400 Beverly, Massachusetts 01915 US
  • Assignee: SAGE SCIENCE, INC.
  • Current Assignee: SAGE SCIENCE, INC.
  • Current Assignee Address: 500 Cummings Center, Suite 2400 Beverly, Massachusetts 01915 US
  • Agency: HOPKINS, Brian, P. et al.
  • Priority: US62/483,261 20170407
  • Main IPC: G01N27/26
  • IPC: G01N27/26 G01N27/28
SYSTEMS AND METHODS FOR DETECTION OF GENETIC STRUCTURAL VARIATION USING INTEGRATED ELECTROPHORETIC DNA PURIFICATION
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.
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