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Screening for structural variants

  • US 10,066,259 B2
  • Filed: 01/06/2016
  • Issued: 09/04/2018
  • Est. Priority Date: 01/06/2015
  • Status: Active Grant
First Claim
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1. A method of identifying a structural variant, the method comprising:

  • exposing a nucleic acid in a sample to a plurality of molecular inversion probes (MIPs), each MIP comprising two targeting arms designed to hybridize upstream and downstream of a target in a reference genome;

    connecting together two of the MIPs via arms that have hybridized to the same molecule of the nucleic acid by only one of the two targeting arms of each MIP to create an inter-probe product;

    detecting the inter-probe product;

    identifying a structural variant of the genome in the nucleic acid;

    describing one or more breakpoints in the nucleic acid based on the two MIPs that each hybridizes to the nucleic acid by only one of its two targeting arms.

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