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Prioritisation of structural variant calls in cancer genomes

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 from...

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Detalles Bibliográficos
Autores principales: Ahdesmäki, Miika J., Chapman, Brad A., Cingolani, Pablo, Hofmann, Oliver, Sidoruk, Aleksandr, Lai, Zhongwu, Zakharov, Gennadii, Rodichenko, Mikhail, Alperovich, Mikhail, Jenkins, David, Carr, T. Hedley, Stetson, Daniel, Dougherty, Brian, Barrett, J. Carl, Johnson, Justin H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PeerJ Inc. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5382922/
https://www.ncbi.nlm.nih.gov/pubmed/28392986
http://dx.doi.org/10.7717/peerj.3166