GrassSV - hybrid method to detect structural variants in high throughput DNA-seq data

GrassSV — hybrid method combining depth-of-coverage profiling and contig-based assembly for unified detection of all major SV types from short-read WGS data

GrassSV is a new hybrid structural variant (SV) detection tool from short-read WGS (Illumina) data, combining depth-of-coverage profiling and contig-based recognition to cover all major SV types (deletions, duplications, inversions, insertions). Benchmarked on Genome in a Bottle (GIAB) reference data (clinical gold standard), GrassSV outperforms existing specialized tools at lower computational cost. The tool is open-source (GPL-3.0) and directly deployable in a diagnostic pipeline without combining multiple tools.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

Unified SV detection without a multi-tool assembly approach is the main operational advantage of GrassSV for diagnostic laboratories. The GIAB benchmarking is rigorous and clinically relevant. Worth testing in WGS diagnostic pipelines to reduce bioinformatics burden while maintaining sensitivity for pathogenic SVs.