4.7 Article

iFUSE: integrated fusion gene explorer

期刊

BIOINFORMATICS
卷 29, 期 13, 页码 1700-1701

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OXFORD UNIV PRESS
DOI: 10.1093/bioinformatics/btt252

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  1. Center for Translational Molecular Medicine [05T-401]

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We present iFUSE (integrated fusion gene explorer), an online visualization tool that provides a fast and informative view of structural variation data and prioritizes those breaks likely representing fusion genes. This application uses calculated break points to determine fusion genes based on the latest annotation for genomic sequence information, and where relevant the structural variation (SV) events are annotated with predicted RNA and protein sequences. iFUSE takes as input a Complete Genomics (CG) junction file, a FusionMap fusion detection report file or a file already analysed and annotated by the iFUSE application on a previous occasion. Results: We demonstrate the use of iFUSE with case studies from tumour-normal SV detection derived from Complete Genomics whole-genome sequencing results.

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