Sequence assembly

  • US 10,604,799 B2
  • Filed: 04/11/2014
  • Issued: 03/31/2020
  • Est. Priority Date: 04/04/2012
  • Status: Active Grant
First Claim
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1. A method for assembling sequence reads, the method comprising:

  • obtaining a sample comprising template nucleic acid;

    sequencing the template nucleic acid to generate a plurality of sequence reads;

    inputting a reference genome and said plurality of sequence reads intoa computer system comprising a processor coupled to a non-transitory memory to perform the steps of;

    assembling a contig from at least some of the plurality of sequence reads;

    identifying a plurality of contig;

    reference descriptions of mutations by aligning the contig to said reference genome;

    identifying a plurality of read;

    contig descriptions by aligning each of the plurality of sequence reads to the contig; and

    combining the contig;

    reference descriptions with the read;

    contig descriptions to produce read;

    reference descriptions to map positional information of mutations found in the individual reads relative to the reference.

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