SYSTEMS AND METHODS FOR DETECTING STRUCTURAL VARIANTS

摘要

Systems and method for identifying gene fusions can obtain sequencing information for a plurality of amplicons from a nucleic acid sample. The sequencing information can include a plurality of reads that are initially partially mapped to a reference sequence. Fragments may be generated by splitting the partially mapped reads into mapped and unmapped fragments, and the fragments may be remapped to the reference sequence. Gene fusions can be identified based on reads where the first fragment maps to a first gene and the second fragment maps to a second gene.

主权项

1. A method for detecting gene fusions comprising:
amplifying a nucleic acid sample in the presence of a primer pool to produce a plurality of amplicons; sequencing the amplicons by detecting a plurality of signals indicative of nucleotide incorporation events to generate a plurality of reads; mapping the reads to a reference genome based on alignments between the reads and the reference genome; identifying reads that partially map to the reference genome; generating read fragments by splitting the partially mapped reads into a mapped region and an unmapped region; mapping the read fragments to the reference genome; identifying candidate fusions based on loci on the reference genome for the mapped region and the unmapped region of the read fragments.