Towards standards for analysing structural variants from short-read whole genome sequencing data
James C. Slimmer, Johanna L. Jones, William R. Reay, Kathryn P. Burdon, Nicholas B. Blackburn
The paper benchmarks structural variant analysis tools on short-read WGS data, finding that ensemble pipelines significantly reduce accuracy compared to individual tools.
bioRxiv · Oct 14, 2026 · PreprintGenomics