Prioritisation of structural variant calls in cancer genomes

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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Bibliographic Details
Main Authors: Miika J. Ahdesmäki, Brad A. Chapman, Pablo Cingolani, Oliver Hofmann, Aleksandr Sidoruk, Zhongwu Lai, Gennadii Zakharov, Mikhail Rodichenko, Mikhail Alperovich, David Jenkins, T. Hedley Carr, Daniel Stetson, Brian Dougherty, J. Carl Barrett, Justin H. Johnson
Format: Article
Language:English
Published: PeerJ Inc. 2017-04-01
Series:PeerJ
Subjects:
Structural variation
Gene fusion
Oncology
Prioritisation
Annotation
Visualisation
Online Access:https://peerj.com/articles/3166.pdf

Internet

https://peerj.com/articles/3166.pdf

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