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Discovering chimeric transcripts in paired-end RNA-seq data by using EricScript

by: Matteo Benelli, Chiara Pescucci, Giuseppina Marseglia, Marco Severgnini, Francesca Torricelli, Alberto Magi
Bioinformatics, Vol. 28, No. 24. (01 December 2012), pp. 3232-3239, doi:10.1093/bioinformatics/bts617  Key: citeulike:11534460

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Abstract

Motivation: The discovery of novel gene fusions can lead to a better comprehension of cancer progression and development. The emergence of deep sequencing of trancriptome, known as RNA-seq, has opened many opportunities for the identification of this class of genomic alterations, leading to the discovery of novel chimeric transcripts in melanomas, breast cancers and lymphomas. Nowadays, few computational approaches have been developed for the detection of chimeric transcripts. Although all of these computational methods show good sensitivity, much work remains to reduce the huge number of false-positive calls that arises from this analysis.


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