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BASECALLER FOR DNA SEQUENCING USING MACHINE LEARNING

  • US 20150169824A1
  • Filed: 12/15/2014
  • Published: 06/18/2015
  • Est. Priority Date: 12/16/2013
  • Status: Active Grant
First Claim
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1. A method of calling one or more bases for a nucleic acid of an organism, the method comprising:

  • receiving, at a computer system, a basecalling model, the basecalling model configured to;

    receive inputs of intensity values for bases at one or more positions on a nucleic acid, andoutput a base call for each of the one or more positions, wherein the basecalling model is trained using a statistically significant number of assumed sequences of training nucleic acids and corresponding intensity values for bases at the positions of the assumed sequences, the corresponding intensity values being obtained from one or more first sequencing processes of training nucleic acids;

    receiving, at the computer system, sequencing data of test nucleic acids from a second sequencing process that is different from any of the first sequencing processes, the sequencing data including intensity values for bases at a plurality of positions of a first test nucleic acid;

    for each of N positions of the first test nucleic acid;

    identifying intensity values corresponding to the position;

    determining, by the computer system, a first base call at a first of the N positions using the basecalling model based on inputs of the intensity values for the N positions, where N is an integer equal to or greater than 1.

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