TY - JOUR T1 - Prioritisation of Structural Variant Calls in Cancer Genomes JF - bioRxiv DO - 10.1101/084640 SP - 084640 AU - Miika J Ahdesmäki AU - Brad Chapman AU - Pablo E Cingolani AU - Oliver Hofmann AU - Aleksandr Sidoruk AU - Zhongwu Lai AU - Gennadii Zakharov AU - Mikhail Rodichenko AU - Mikhail Alperovich AU - David Jenkins AU - T. Hedley Carr AU - Daniel Stetson AU - Brian Dougherty AU - J. Carl Barrett AU - Justin J Johnson Y1 - 2016/01/01 UR - http://biorxiv.org/content/early/2016/11/02/084640.abstract N2 - 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. ER -