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CVE: an R package for interactive variant prioritisation in precision oncology

Authors :
Charles E. Massie
Nitzan Rosenfeld
James Morris
Francesco Marass
Suzanne Murphy
Andreas Mock
Rosenfeld, Nitzan [0000-0002-2825-4788]
Massie, Charles [0000-0003-2314-4843]
Apollo - University of Cambridge Repository
Massie, Charles Edward [0000-0003-2314-4843]
Source :
BMC Medical Genomics, Vol 10, Iss 1, Pp 1-12 (2017), BMC Medical Genomics
Publication Year :
2017
Publisher :
BioMed Central, 2017.

Abstract

Background An increasing number of precision oncology programmes are being launched world-wide. To support this development, we present the Cancer Variant Explorer (CVE), an R package with an interactive Shiny web browser interface. Results Leveraging Oncotator and the Drug Gene Interaction Database, CVE offers exploration of variants within single or multiple tumour exomes to identify drivers, resistance mechanisms and to assess druggability. We present example applications including the analysis of an individual patient and a cohort-wide study, and provide a first extension of CVE by adding a tumour-specific co-expression network. Conclusions The CVE package allows interactive variant prioritisation to expedite the analysis of cancer sequencing studies. Our framework also includes the prioritisation of druggable targets, allows exploratory analysis of tissue specific networks and is extendable for specific applications by virtue of its modular design. We encourage the use of CVE within translational research studies and molecular tumour boards. The CVE package is available via Bioconductor (http://bioconductor.org/packages/CVE/). Electronic supplementary material The online version of this article (doi:10.1186/s12920-017-0261-6) contains supplementary material, which is available to authorized users.

Details

Database :
OpenAIRE
Journal :
BMC Medical Genomics, Vol 10, Iss 1, Pp 1-12 (2017), BMC Medical Genomics
Accession number :
edsair.doi.dedup.....41e08f7bc8affac98371c5b5b308b780