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Discovering chimeric transcripts in paired-end RNA-seq data by using EricScript
Author(s) -
Matteo Benelli,
Chiara Pescucci,
Giuseppina Marseglia,
Marco Severgnini,
Francesca Torricelli,
Alberto Magi
Publication year - 2012
Publication title -
bioinformatics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.599
H-Index - 390
eISSN - 1367-4811
pISSN - 1367-4803
DOI - 10.1093/bioinformatics/bts617
Subject(s) - rna seq , identification (biology) , computational biology , computer science , gene , fusion gene , rna , biology , genetics , transcriptome , gene expression , botany
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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