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


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

SUBMITTER: Chen K 

PROVIDER: S-EPMC3389765 | biostudies-literature | 2012 Jul

REPOSITORIES: biostudies-literature

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

Chen Ken K   Wallis John W JW   Kandoth Cyriac C   Kalicki-Veizer Joelle M JM   Mungall Karen L KL   Mungall Andrew J AJ   Jones Steven J SJ   Marra Marco A MA   Ley Timothy J TJ   Mardis Elaine R ER   Wilson Richard K RK   Weinstein John N JN   Ding Li L  

Bioinformatics (Oxford, England) 20120504 14


<h4>Unlabelled</h4>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.<h4>Availability</h4>http://bioinformatics.mdanderson.org/main/BreakFus  ...[more]

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