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Methods and materials for assessing allelic imbalance

  • US 9,279,156 B2
  • Filed: 12/17/2013
  • Issued: 03/08/2016
  • Est. Priority Date: 06/17/2011
  • Status: Active Grant
First Claim
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1. An in vitro method for detecting homozygosity at a plurality of single nucleotide polymorphism loci, comprising:

  • (1) providing a formalin-fixed paraffin-embedded sample comprising at least one tumor cell obtained from a patient;

    (2) enriching the sample in (1) for test DNA molecules each comprising at least one locus from the plurality of single nucleotide polymorphism loci, wherein the plurality of single nucleotide polymorphism loci comprises at least 5,000 single nucleotide polymorphism loci and wherein there is at least one single nucleotide polymorphism locus located on average every 500 kb within each chromosome; and

    (3) sequencing the test DNA molecules to determine whether each locus in the plurality of single nucleotide polymorphism loci is homozygous.

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