Title | ||
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VISOR: a versatile haplotype-aware structural variant simulator for short and long read sequencing. |
Abstract | ||
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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 |
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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 Bolognini | 1 | 0 | 0.68 |
Ashley D. Sanders | 2 | 0 | 1.35 |
Jan O. Korbel | 3 | 111 | 10.36 |
Alberto Magi | 4 | 29 | 5.73 |
Vladimir Benes | 5 | 76 | 6.13 |
Tobias Rausch | 6 | 262 | 18.00 |