FusionFinder: a software tool to identify expressed gene fusion candidates from RNA-Seq data.

摘要: The hallmarks of many haematological malignancies and solid tumours are chromosomal translocations, which may lead to gene fusions. Recently, next-generation sequencing techniques at the transcriptome level (RNA-Seq) have been used verify known discover novel transcribed We present FusionFinder, a Perl-based software designed automate discovery candidate fusion partners from single-end (SE) or paired-end (PE) RNA-Seq read data. FusionFinder was applied data previously published analysis K562 chronic myeloid leukaemia (CML) cell line. Using we successfully replicated findings this study detected additional unreported genes in their dataset, were confirmed experimentally. These included two isoforms involving BRK1 VHL, whose co-deletion has associated with prevalence severity renal-cell carcinoma. is made freely available for non-commercial use can be downloaded project website (http://bioinformatics.childhealthresearch.org.au/software/fusionfinder/).