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Marek Cmero edited this page Jul 27, 2020 · 3 revisions
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MINTIE is a tool for identifying novel, rare transcriptional variants in cancer RNA-seq data. MINTIE detects:

  • Fusions: standard exon-exon 'canonical' fusions between two genes can be detected, as well as fusions involving intergenic and other non-exonic regions.
  • Transcribed structural variants: including insertions (including internal tandem duplications), deletions, unknown start/end transcriptional sites and intergenic rearrangements such as inversions and partial tandem duplications.
  • Novel splice variants: any splice variant not found in the reference can potentially be detected, including novel donor and acceptor sites, novel/extended exons, skipped exons and retained introns.
  • Complex variants: MINTIE annotates all novel transcriptional variants found on a given assembled contig, hence the software can also detect fusions where the boundaries contain insertions, extended exons or novel exons.
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