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METHODS AND SYSTEMS FOR GENOMIC ANALYSIS

  • US 20160019341A1
  • Filed: 09/30/2015
  • Published: 01/21/2016
  • Est. Priority Date: 08/30/2013
  • Status: Active Grant
First Claim
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1. A method for genetic analysis of a subject, comprising:

  • a. subjecting a first nucleic acid sample of said subject to untargeted sequencing to generate untargeted sequencing data, wherein said untargeted sequencing data has a coverage that is less than 100% of a full coverage of a genome of said subject;

    b. subjecting a second nucleic acid sample of said subject to target-specific sequencing to generate target-specific sequencing data;

    c. combining, with the aid of a computer processor, said untargeted sequencing data and said target-specific sequencing data to produce a combined data set; and

    d. generating, with the aid of a computer processor, an output from at least a portion of said combined data set, wherein said output is indicative of a presence or absence of one or more polymorphisms in said genome of said subject or a portion of said genome.

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