Bellerophontes: an RNA-Seq data analysis framework for chimeric transcripts discovery based on accurate fusion model

被引:23
作者
Abate, Francesco [1 ]
Acquaviva, Andrea [1 ]
Paciello, Giulia [1 ]
Foti, Carmelo [1 ]
Ficarra, Elisa [1 ]
Ferrarini, Alberto [2 ]
Delledonne, Massimo [2 ]
Iacobucci, Ilaria [3 ]
Soverini, Simona [3 ]
Martinelli, Giovanni [3 ]
Macii, Enrico [1 ]
机构
[1] Politecn Torino, Dept Control & Comp Engn, I-10129 Turin, Italy
[2] Univ Verona, Dept Biotechnol, I-37134 Verona, Italy
[3] Univ Bologna, Inst Med Oncol & Hematol, I-40138 Bologna, Italy
关键词
SPLICE JUNCTIONS; GENE FUSIONS; CANCER;
D O I
10.1093/bioinformatics/bts334
中图分类号
Q5 [生物化学];
学科分类号
071010 ; 081704 ;
摘要
Motivation: Next-generation sequencing technology allows the detection of genomic structural variations, novel genes and transcript isoforms from the analysis of high-throughput data. In this work, we propose a new framework for the detection of fusion transcripts through short paired-end reads which integrates splicing-driven alignment and abundance estimation analysis, producing a more accurate set of reads supporting the junction discovery and taking into account also not annotated transcripts. Bellerophontes performs a selection of putative junctions on the basis of a match to an accurate gene fusion model. Results: We report the fusion genes discovered by the proposed framework on experimentally validated biological samples of chronic myelogenous leukemia (CML) and on public NCBI datasets, for which Bellerophontes is able to detect the exact junction sequence. With respect to state-of-art approaches, Bellerophontes detects the same experimentally validated fusions, however, it is more selective on the total number of detected fusions and provides a more accurate set of spanning reads supporting the junctions. We finally report the fusions involving non-annotated transcripts found in CML samples.
引用
收藏
页码:2114 / 2121
页数:8
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