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.

VISOR: a versatile haplotype-aware structural variant simulator for short and long read sequencing / Bolognini, Davide; Sanders, Ashley; Korbel, Jan O; Magi, Alberto; Benes, Vladimir; Rausch, Tobias. - In: BIOINFORMATICS. - ISSN 1367-4803. - ELETTRONICO. - (2019), pp. 0-0. [10.1093/bioinformatics/btz719]

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

Magi, Alberto;
2019

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.
2019
0
0
Bolognini, Davide; Sanders, Ashley; Korbel, Jan O; Magi, Alberto; Benes, Vladimir; Rausch, Tobias
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/1179806
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