SYSTEMS AND METHODS TO DETECT RARE MUTATIONS AND COPY NUMBER VARIATION

  • US 20160251704A1
  • Filed: 03/21/2016
  • Published: 09/01/2016
  • Est. Priority Date: 09/04/2012
  • Status: Active Grant
First Claim
Patent Images

1. A method for detecting genetic aberrations in cfDNA (“

  • cfDNA”

    ) from a subject, comprising;

    a) providing cfDNA molecules obtained from a bodily sample of the subject;

    b) attaching to the cfDNA molecules, tags comprising barcodes having distinct barcode sequences to generate tagged parent polynucleotides, wherein at least 10% of the cfDNA is tagged by the attaching step;

    c) amplifying the tagged parent polynucleotides to produce tagged progeny polynucleotides;

    d) sequencing the tagged progeny polynucleotides to produce sequence reads, wherein each sequence read comprises a barcode sequence and a sequence derived from a cfDNA molecule;

    e) grouping the sequence reads into families based at least on the barcode sequence;

    f) comparing the sequence reads grouped within each family to determine consensus sequences for each family, wherein each of the consensus sequences corresponds to a unique polynucleotide among the tagged parent polynucleotides; and

    g) detecting, at one or more genetic loci, a plurality of genetic aberrations, wherein the genetic aberrations are differently selected from;

    a single base substitution, a copy number variation, an indel and a gene fusion.

View all claims
    ×
    ×

    Thank you for your feedback

    ×
    ×