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Methods and Systems for Medical Sequencing Analysis

  • US 20110098193A1
  • Filed: 10/22/2010
  • Published: 04/28/2011
  • Est. Priority Date: 10/22/2009
  • Status: Abandoned Application
First Claim
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1. A method of identifying an inherited trait in a subject, comprisingcollecting a biological sample from the subject comprising a DNA sequence;

  • aligning the DNA sequence to normal reference sequences and mutant reference sequences;

    counting sequence reads aligning to normal references;

    counting sequence reads aligning to mutant references; and

    determining a ratio of aligned reads, wherein if the ratio is greater than a first value the inherited trait is a homozygous mutant, if the ratio is between a second value and a third value the inherited trait is a heterozygous mutant, and if the ratio is less than a fourth value the inherited trait is a homozygous wild-type.

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