VISOR: a versatile haplotype-aware structural variant simulator for short- and long-read sequencing

Tools

Item Type:	Article
Title:	VISOR: a versatile haplotype-aware structural variant simulator for short- and long-read sequencing
Creators Name:	Bolognini, D., Sanders, A., Korbel, J.O., Magi, A., Benes, V. and Rausch, T.
Abstract:	VISOR is a tool for haplotype-specific simulations of simple and complex structural variants (SVs). The method is applicable to haploid, diploid or higher ploidy simulations for bulk or single-cell sequencing data. SVs are implanted into FASTA haplotypes at single-basepair resolution, optionally with nearby single-nucleotide variants. Short or long reads are drawn at random from these haplotypes using standard error profiles. Double- or single-stranded data can be simulated and VISOR supports the generation of haplotype-tagged BAM files. The tool further includes methods to interactively visualize simulated variants in single-stranded data. The versatility of VISOR is unmet by comparable tools and it lays the foundation to simulate haplotype-resolved cancer heterogeneity data in bulk or at single-cell resolution. AVAILABILITY AND IMPLEMENTATION: VISOR is implemented in python 3.6, open-source and freely available at https://github.com/davidebolo1993/VISOR. Documentation is available at https://davidebolo1993.github.io/visordoc/.
Keywords:	Diploidy, DNA Sequence Analysis, Haplotypes, High-Throughput Nucleotide Sequencing, Software
Source:	Bioinformatics
ISSN:	1367-4803
Publisher:	Oxford University Press
Volume:	36
Number:	4
Page Range:	1267-1269
Date:	15 February 2020
Official Publication:	https://doi.org/10.1093/bioinformatics/btz719
PubMed:	View item in PubMed

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