insilicoSV: a flexible grammar-based framework for structural variant simulation and placement.

Abstract excerpt

SUMMARY: Structural variants (SVs) are key drivers of genetic variation and disease in the genome. Their discovery remains challenging, however, in large part due to the scarcity of validated SV callsets and comprehensive benchmarks, which are essential for method development and evaluation. The growing number of data-driven learning-based approaches for SV discovery, in particular, requires large, diverse, and...

Topics

• Software
• Humans
• Genomic Structural Variation
• Computer Simulation
• Genomics
• Computational Biology