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publicationDate 2016-01-21-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber WO-2016011378-A1
titleOfInvention Systems and methods for detecting structural variants
abstract 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.
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