FusionSeq: a modular framework for finding gene fusions by analyzing paired-end RNA-sequencing data.

ABSTRACT: We have developed FusionSeq to identify fusion transcripts from paired-end RNA-sequencing. FusionSeq includes filters to remove spurious candidate fusions with artifacts, such as misalignment or random pairing of transcript fragments, and it ranks candidates according to several statistics. It also has a module to identify exact sequences at breakpoint junctions. FusionSeq detected known and novel fusions in a specially sequenced calibration data set, including eight cancers with and without known rearrangements.

SUBMITTER: Sboner A 

PROVIDER: S-EPMC3218660 | biostudies-literature | 2010

REPOSITORIES: biostudies-literature