BVSim: A benchmarking variation simulator mimicking human variation spectrum.

ABSTRACT:

Background

Genomic variations, including single-nucleotide polymorphisms, small insertions and deletions, and structural variations, are crucial for understanding evolution and disease. However, comprehensive simulation tools for benchmarking genomic analysis methods are lacking. Existing simulators do not accurately represent the nonuniform distribution and length patterns of structural variations in human genomes, and simulating complex structural variations remains challenging.

Results

We present BVSim, a flexible tool that provides probabilistic simulations of genomic variations, primarily focusing on human patterns while accommodating diverse species. BVSim effectively simulates both simple and complex structural variations and small variants by mimicking real-life vari

SUBMITTER: Luo Y 

PROVIDER: S-EPMC12398280 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature