Title
VISOR: a versatile haplotype-aware structural variant simulator for short and long read sequencing.
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.
Year
DOI
Venue
2020
10.1093/bioinformatics/btz719
BIOINFORMATICS
Field
DocType
Volume
Data mining,Computer architecture,Computer science,Visor,Haplotype,Structural variant
Journal
36
Issue
ISSN
Citations 
4
1367-4803
0
PageRank 
References 
Authors
0.34
0
6
Name
Order
Citations
PageRank
Davide Bolognini100.68
Ashley D. Sanders201.35
Jan O. Korbel311110.36
Alberto Magi4295.73
Vladimir Benes5766.13
Tobias Rausch626218.00