FusionHunter: identifying fusion transcripts in cancer using paired-end RNA-seq

Yang Li, Jeremy Chien, David I. Smith, Jian Ma
2011 Computer applications in the biosciences : CABIOS  
Motivation: Fusion transcripts can be created as a result of genome rearrangement in cancer. Some of them play important roles in carcinogenesis, and can serve as diagnostic and therapeutic targets. With more and more cancer genomes being sequenced by nextgeneration sequencing technologies, we believe an efficient tool for reliably identifying fusion transcripts will be desirable for many groups. Results: We designed and implemented an open-source software tool, called FusionHunter, which
more » ... ly identifies fusion transcripts from transcriptional analysis of paired-end RNA-seq. We show that FusionHunter can accurately detect fusions that were previously confirmed by RT-PCR in a publicly available dataset. The purpose of FusionHunter is to identify potential fusions with high sensitivity and specificity and to guide further functional validation in the laboratory.
doi:10.1093/bioinformatics/btr265 pmid:21546395 fatcat:djuy6vknvfbmpg2gxqw2shbtpi