Show simple item record

dc.contributor.authorAhdesmaki, MJ
dc.contributor.authorChapman, BA
dc.contributor.authorCingolani, P
dc.contributor.authorHofmann, O
dc.contributor.authorSidoruk, A
dc.contributor.authorLai, Z
dc.contributor.authorZakharov, G
dc.contributor.authorRodichenko, M
dc.contributor.authorAlperovich, M
dc.contributor.authorJenkins, D
dc.contributor.authorCarr, TH
dc.contributor.authorStetson, D
dc.contributor.authorDougherty, B
dc.contributor.authorBarrett, JC
dc.contributor.authorJohnson, JH
dc.date.accessioned2020-12-18T03:17:12Z
dc.date.available2020-12-18T03:17:12Z
dc.date.issued2017-04-04
dc.identifierpii: 3166
dc.identifier.citationAhdesmaki, M. J., Chapman, B. A., Cingolani, P., Hofmann, O., Sidoruk, A., Lai, Z., Zakharov, G., Rodichenko, M., Alperovich, M., Jenkins, D., Carr, T. H., Stetson, D., Dougherty, B., Barrett, J. C. & Johnson, J. H. (2017). Prioritisation of structural variant calls in cancer genomes. PEERJ, 5 (4), https://doi.org/10.7717/peerj.3166.
dc.identifier.issn2167-8359
dc.identifier.urihttp://hdl.handle.net/11343/255706
dc.description.abstractSensitivity 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 from existing structural variant calls. 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.
dc.languageEnglish
dc.publisherPEERJ INC
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.titlePrioritisation of structural variant calls in cancer genomes
dc.typeJournal Article
dc.identifier.doi10.7717/peerj.3166
melbourne.affiliation.departmentClinical Pathology
melbourne.source.titlePeerJ
melbourne.source.titlePeerJ
melbourne.source.volume5
melbourne.source.issue4
dc.rights.licenseCC BY
melbourne.elementsid1201747
melbourne.contributor.authorHofmann, Oliver
dc.identifier.eissn2167-8359
melbourne.accessrightsOpen Access


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record