@article {Ahdesm{\"a}ki084640, author = {Miika J Ahdesm{\"a}ki and Brad Chapman and Pablo E Cingolani and Oliver Hofmann and Aleksandr Sidoruk and Zhongwu Lai and Gennadii Zakharov and Mikhail Rodichenko and Mikhail Alperovich and David Jenkins and T. Hedley Carr and Daniel Stetson and Brian Dougherty and J. Carl Barrett and Justin J Johnson}, title = {Prioritisation of Structural Variant Calls in Cancer Genomes}, elocation-id = {084640}, year = {2016}, doi = {10.1101/084640}, publisher = {Cold Spring Harbor Laboratory}, abstract = {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.}, URL = {https://www.biorxiv.org/content/early/2016/11/02/084640}, eprint = {https://www.biorxiv.org/content/early/2016/11/02/084640.full.pdf}, journal = {bioRxiv} }