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- Title
BreakFusion: targeted assembly-based identification of gene fusions in whole transcriptome paired-end sequencing data.
- Authors
Chen, Ken; Wallis, John W; Kandoth, Cyriac; Kalicki-Veizer, Joelle M; Mungall, Karen L; Mungall, Andrew J; Jones, Steven J; Marra, Marco A; Ley, Timothy J; Mardis, Elaine R; Wilson, Richard K; Weinstein, John N; Ding, Li
- 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.
- Publication
Bioinformatics (Oxford, England), 2012, Vol 28, Issue 14, p1923
- ISSN
1367-4811
- Publication type
Journal Article
- DOI
10.1093/bioinformatics/bts272