BioinformaticsBioinformaticsPeer-reviewed journal article
Viola: a structural variant signature extractor with user-defined classifications
Itsuki Sugita, Shohei Matsuyama, Hiroki DobashiiD, Daisuke KomuraiD, Shumpei IshikawaiD
Abstract
Here, we present Viola, a Python package that provides structural variant (SV; large scale genome DNA variations that can result in disease, e.g., cancer) signature analytical functions and utilities for custom SV classification, merging multi-SV-caller output files, and SV annotation. We demonstrate that Viola can extract biologically meaningful SV signatures from publicly available SV data for cancer and we evaluate the computational time necessary for annotation of the data. AvailabilityViola is available on pip (https://pypi.org/project/Viola-SV/) and on GitHub (https://github.com/dermasugita/Viola-SV). Contactkdais-prm@m.u-tokyo.ac.jp
- assay: whole-genome sequencing
- research focus: variant calling
- research focus: variant effect prediction
- research focus: software / tool
- approach: statistical model
- approach: experimental assay
- Citations
- 8
- FWCI
- 0.71
- Field percentile
- top 33%
Reproducibility ledger
Nobody has reported trying to reproduce this paper yet. Did you replicate an experiment or run the code? Your report saves the next lab a week.
Sign in to file a reproducibility report.
Related papers
- Mining Thousands of Genomes to Classify Somatic and Pathogenic Structural Variants
Ryan M. Layer, Fritz Joachim Sedlazeck, … Aaron R. Quinlan·bioRxiv·Apr 21, 2021
- svclassify: a method to establish benchmark structural variant calls
Hemang Parikh, Marghoob Mohiyuddin, … Marc L. Salit·BMC GenomicsPeer-reviewed·Jan 16, 2016
- SVlog: a logic programming framework for understanding structural variation in genomic disease
Mikhail Gudkov, Andre L. M. Reis, … Ira W. Deveson·bioRxiv·Aug 21, 2026
- SomaticSignatures: Inferring Mutational Signatures from Single Nucleotide Variants
Julian S. Gehring, Bernd Fischer, … Wolfgang Huber·bioRxiv·Mar 16, 2015
- Accurate identification of structural variations from cancer samples
Le Li, Chenyang Hong, … Kevin Yuk-Lap Yip·Briefings in BioinformaticsPeer-reviewed·Nov 22, 2023
- Samplot: A Platform for Structural Variant Visual Validation and Automated Filtering
Jonathan R. Belyeu, Murad Chowdhury, … Ryan M. Layer·Genome biologyPeer-reviewed·May 25, 2021