RT Journal Article SR Electronic T1 Prioritisation of Structural Variant Calls in Cancer Genomes JF bioRxiv FD Cold Spring Harbor Laboratory SP 084640 DO 10.1101/084640 A1 Miika J Ahdesmäki A1 Brad Chapman A1 Pablo E Cingolani A1 Oliver Hofmann A1 Aleksandr Sidoruk A1 Zhongwu Lai A1 Gennadii Zakharov A1 Mikhail Rodichenko A1 Mikhail Alperovich A1 David Jenkins A1 T. Hedley Carr A1 Daniel Stetson A1 Brian Dougherty A1 J. Carl Barrett A1 Justin J Johnson YR 2016 UL http://biorxiv.org/content/early/2016/11/04/084640.abstract AB Sensitivity of short read DNA-sequencing for gene fusion detection is improving, but is hampered by the significant amount of noise composed of uninteresting or false positive hits in the data. In this paper we describe a tiered prioritisation approach to extract high impact gene fusion events. Using cell line and patient DNA sequence data we improve the annotation and interpretation of structural variant calls to best highlight likely cancer driving fusions. We also considerably improve on the automated visualisation of the high impact structural variants to highlight the effects of the variants on the resulting transcripts. The resulting framework greatly improves on readily detecting clinically actionable structural variants.