Arriba is a command-line tool to detect gene fusions from RNA-Seq data based on the STAR aligner. In addition to fusions, it can detect exon duplicati

CNVkit is a software toolkit to infer and visualize copy number from targeted DNA sequencing data.

Integrated structural variant prediction method that can discover, genotype and visualize deletions, tandem duplications, inversions and translocation

A high-speed next-gen sequencing structural variation caller. It calls variants based on alignment-guided positional de Bruijn graph breakpoint assemb

A pattern growth approach to detect break points of large deletions and medium sized insertions from paired end short reads.