title: FusionAnalyser: a new graphical, event-driven tool for fusion rearrangements discovery.
abstract: Gene fusions are common driver events in leukaemias and solid tumours; here we present FusionAnalyser, a tool dedicated to the identification of driver fusion rearrangements in human cancer through the analysis of paired-end high-throughput transcriptome sequencing data. We initially tested FusionAnalyser by using a set of in silico randomly generated sequencing data from 20 known human translocations occurring in cancer and subsequently using transcriptome data from three chronic and three acute myeloid leukaemia samples. in all the cases our tool was invariably able to detect the presence of the correct driver fusion event(s) with high specificity. In one of the acute myeloid leukaemia samples, FusionAnalyser identified a novel, cryptic, in-frame ETS2-ERG fusion. A fully event-driven graphical interface and a flexible filtering system allow complex analyses to be run in the absence of any a priori programming or scripting knowledge. Therefore, we propose FusionAnalyser as an efficient and robust graphical tool for the identification of functional rearrangements in the context of high-throughput transcriptome sequencing data.
authors.affiliation: Department of Clinical Medicine, University of Milano-Bicocca, Monza, 20900, Italy. rocco.piazza@unimib.it
authors.forename: Rocco
authors.initials: R
authors.lastname: Piazza
authors.forename: Alessandra
authors.initials: A
authors.lastname: Pirola
authors.forename: Roberta
authors.initials: R
authors.lastname: Spinelli
authors.forename: Simona
authors.initials: S
authors.lastname: Valletta
authors.forename: Sara
authors.initials: S
authors.lastname: Redaelli
authors.forename: Vera
authors.initials: V
authors.lastname: Magistroni
authors.forename: Carlo
authors.initials: C
authors.lastname: Gambacorti-Passerini
mesh_terms: D001483:Base Sequence; D003196:Computer Graphics; D050939:Gene Fusion; D023281:Genomics / Q000379:methods; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008969:Molecular Sequence Data; D016415:Sequence Alignment; D012984:Software; D059467:Transcriptome; D014178:Translocation, Genetic