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iWhale: a computational pipeline based on Docker and SCons for detection and annotation of somatic variants in cancer WES data

Andrea Binatti, Silvia Bresolin, Stefania Bortoluzzi, Alessandro Coppe

2020Briefings in Bioinformatics28 citationsDOIOpen Access PDF

Abstract

Whole exome sequencing (WES) is a powerful approach for discovering sequence variants in cancer cells but its time effectiveness is limited by the complexity and issues of WES data analysis. Here we present iWhale, a customizable pipeline based on Docker and SCons, reliably detecting somatic variants by three complementary callers (MuTect2, Strelka2 and VarScan2). The results are combined to obtain a single variant call format file for each sample and variants are annotated by integrating a wide range of information extracted from several reference databases, ultimately allowing variant and gene prioritization according to different criteria. iWhale allows users to conduct a complex series of WES analyses with a powerful yet customizable and easy-to-use tool, running on most operating systems (macOs, GNU/Linux and Windows). iWhale code is freely available at https://github.com/alexcoppe/iWhale and the docker image is downloadable from https://hub.docker.com/r/alexcoppe/iwhale.

Topics & Concepts

Computer sciencePipeline (software)AnnotationPrioritizationExome sequencingExomeData miningDatabaseOperating systemGeneArtificial intelligenceMutationBiologyGeneticsEconomicsManagement scienceCancer Genomics and DiagnosticsGenomics and Phylogenetic StudiesGene expression and cancer classification
iWhale: a computational pipeline based on Docker and SCons for detection and annotation of somatic variants in cancer WES data | Litcius