×

Systems and methods for detection of genomic copy number changes

  • US 9,890,425 B2
  • Filed: 03/13/2014
  • Issued: 02/13/2018
  • Est. Priority Date: 03/15/2013
  • Status: Active Grant
First Claim
Patent Images

1. A method of detecting chromosomal copy number changes or altered expression of a nucleic acid region of interest, comprising:

  • a) amplifying nucleic acid from said region of interest and at least one control region on the same chromosome as said region of interest and at least one control region on a different chromosome than said region of interest to generate a library of one or more target and one or more control amplicons;

    b) sequencing said target and control amplicons to generate sequencing reads wherein said sequencing is selected from the group consisting of pyrosequencing, sequencing-by-ligation, single molecule sequencing, sequence-by-synthesis (SBS), massive parallel clonal sequencing, massive parallel single molecule SBS, massive parallel single molecule real-time sequencing, and massive parallel single molecule real-time nanopore sequencing;

    c) using said sequencing reads to compare the level of target amplicon to the level of control amplicon; and

    d) detecting chromosomal copy number changes or altered expression of said nucleic acid region of interest when the level of target amplicon is different than the level of at least one said control amplicon generated from said nucleic acid from said at least one control region on the same chromosome as said region of interest.

View all claims
  • 1 Assignment
Timeline View
Assignment View
    ×
    ×