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Systems and methods to detect rare mutations and copy number variation

  • US 10,457,995 B2
  • Filed: 01/16/2018
  • Issued: 10/29/2019
  • Est. Priority Date: 09/04/2012
  • Status: Active Grant
First Claim
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1. A method for detecting copy number variation, comprising:

  • a) attaching a set of molecular barcodes to cell-free nucleic acid molecules obtained or derived from a sample of a subject to produce tagged parent polynucleotides, wherein a plurality of the tagged parent polynucleotides has identical molecular barcodes;

    b) amplifying the plurality of the tagged parent polynucleotides, thereby producing progeny polynucleotides;

    c) sequencing at least a portion of the progeny polynucleotides to generate sequence reads;

    d) mapping the sequence reads derived from the sequencing to a reference sequence to produce mapped reads;

    e) grouping the mapped sequence reads into families, wherein, of the families, a family corresponds to sequence reads of one or more progeny polynucleotides amplified from a same tagged parent polynucleotide of the plurality of the tagged parent polynucleotides;

    f) quantifying numbers of families mapping to predefined regions of the reference sequence; and

    g) determining copy number variation in one or more of the predefined regions from the numbers of families mapping to the predefined regions of the reference sequence.

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