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

نویسندگان

  • Ken Chen
  • John W. Wallis
  • Cyriac Kandoth
  • Joelle M. Kalicki-Veizer
  • Karen L. Mungall
  • Andrew J. Mungall
  • Steven J. M. Jones
  • Marco A. Marra
  • Timothy J. Ley
  • Elaine R. Mardis
  • Richard K. Wilson
  • John N. Weinstein
  • Li Ding
چکیده

UNLABELLED 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. AVAILABILITY http://bioinformatics.mdanderson.org/main/BreakFusion

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عنوان ژورنال:
  • Bioinformatics

دوره 28 14  شماره 

صفحات  -

تاریخ انتشار 2012