期刊
BIOINFORMATICS
卷 29, 期 20, 页码 2539-2546出版社
OXFORD UNIV PRESS
DOI: 10.1093/bioinformatics/btt445
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资金
- Spanish Ministry of Science and Innovation [SAF 2007-62473]
- PIUNA Program of the University of Navarra
- Caja Navarra Foundation through the Program 'You choose, you decide' [10.830]
- ISCIII-RTICC [RD06/0020/0078]
Motivation: Gene fusions resulting from chromosomal aberrations are an important cause of cancer. The complexity of genomic changes in certain cancer types has hampered the identification of gene fusions by molecular cytogenetic methods, especially in carcinomas. This is changing with the advent of next-generation sequencing, which is detecting a substantial number of new fusion transcripts in individual cancer genomes. However, this poses the challenge of identifying those fusions with greater oncogenic potential amid a background of 'passenger' fusion sequences. Results: In the present work, we have used some recently identified genomic hallmarks of oncogenic fusion genes to develop a pipeline for the classification of fusion sequences, namely, Oncofuse. The pipeline predicts the oncogenic potential of novel fusion genes, calculating the probability that a fusion sequence behaves as 'driver' of the oncogenic process based on features present in known oncogenic fusions. Cross-validation and extensive validation tests on independent datasets suggest a robust behavior with good precision and recall rates. We believe that Oncofuse could become a useful tool to guide experimental validation studies of novel fusion sequences found during next-generation sequencing analysis of cancer transcriptomes.
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