PT  - JOURNAL ARTICLE
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
TI  - Prioritisation of Structural Variant Calls in Cancer Genomes
AID  - 10.1101/084640
DP  - 2016 Jan 01
TA  - bioRxiv
PG  - 084640
4099  - http://biorxiv.org/content/early/2016/11/02/084640.short
4100  - http://biorxiv.org/content/early/2016/11/02/084640.full
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.