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Viola: a structural variant signature extractor with user-defined classifications

SUMMARY: 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 dem...

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Detalles Bibliográficos
Autores principales: Sugita, Itsuki, Matsuyama, Shohei, Dobashi, Hiroki, Komura, Daisuke, Ishikawa, Shumpei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8723148/
https://www.ncbi.nlm.nih.gov/pubmed/34534268
http://dx.doi.org/10.1093/bioinformatics/btab662
Descripción
Sumario:SUMMARY: 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. AVAILABILITY AND IMPLEMENTATION: Viola is available on pip (https://pypi.org/project/Viola-SV/) and the source code is on GitHub (https://github.com/dermasugita/Viola-SV). SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.