RSVSim

RSVSim simulates structural variations in genomic sequences, including deletions, insertions, inversions, tandem duplications, and translocations, with configurable genomic distributions and size parameters.

Key Features:

• Comprehensive Structural Variant Simulation: Generates deletions, insertions, inversions, tandem duplications, and translocations of varying sizes in user-provided genomes.
• Configurable Genomic Distribution and Repeat Association: Places variants uniformly, biases them toward repeat and high-homology regions (including hg19), or restricts them to user-defined coordinates, with support for repeat-associated SV generation and empirical SV size distribution estimation.

Scientific Applications:

• Structural Variation Modeling: Supports studies of genomic instability, repeat-associated rearrangements, evolutionary dynamics, and disease-related structural variants.

Methodology:

RSVSim, implemented in R, programmatically introduces structural variants into reference genomes according to specified positional distributions and size parameters, and can estimate SV size distributions from real datasets to model empirically informed genomic variation.