BreakFusion: targeted assembly-based identification of gene fusions in whole transcriptome paired-end sequencing data.

Chen, Ken; Wallis, John W; Kandoth, Cyriac; Kalicki-Veizer, Joelle M; Mungall, Karen L; Mungall, Andrew J; Jones, Steven J; Marra, Marco A et al. · Bioinformatics · 2012

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Abstract

Despite recent progress, computational tools that identify gene fusions from next-generation whole transcriptome sequencing data are often limited in accuracy and scalability. Here, we present a software package, BreakFusion that combines the strength of reference alignment followed by read-pair analysis and de novo assembly to achieve a good balance in sensitivity, specificity and computational efficiency. http://bioinformatics.mdanderson.org/main/BreakFusion

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