A novel bioinformatics pipeline for identification and characterization of fusion transcripts in breast cancer and normal cell lines

Yan Asmann, Asif Hossain, Brian M. Necela, Sumit Middha, Krishna R Kalari, Zhifu D Sun, High Seng Chai, David W. Williamson, Derek C Radisky, Gary P. Schroth, Jean-Pierre Kocher, Edith A. Perez, E Aubrey Thompson

Research output: Contribution to journalArticle

67 Scopus citations


SnowShoes-FTD, developed for fusion transcript detection in paired-end mRNA-Seq data, employs multiple steps of false positive filtering to nominate fusion transcripts with near 100% confidence. Unique features include: (i) identification of multiple fusion isoforms from two gene partners; (ii) prediction of genomic rearrangements; (iii) identification of exon fusion boundaries; (iv) generation of a 50-30 fusion spanning sequence for PCR validation; and (v) prediction of the protein sequences, including frame shift and amino acid insertions. We applied SnowShoes-FTD to identify 50 fusion candidates in 22 breast cancer and 9 nontransformed cell lines. Five additional fusion candidates with two isoforms were confirmed. In all, 30 of 55 fusion candidates had in-frame protein products. No fusion transcripts were detected in nontransformed cells. Consideration of the possible functions of a subset of predicted fusion proteins suggests several potentially important functions in transformation, including a possible new mechanism for overexpression of ERBB2 in a HER-positive cell line. The source code of SnowShoes-FTD is provided in two formats: one configured to run on the Sun Grid Engine for parallelization, and the other formatted to run on a single LINUX node. Executables in PERL are available for download from our web site: http://mayoresearch.mayo.edu/ mayo/research/biostat/stand-alone-packages.cfm.

Original languageEnglish (US)
JournalNucleic Acids Research
Issue number15
StatePublished - Aug 2011


ASJC Scopus subject areas

  • Genetics

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