2604.00743 Structural Variant Calling Concordance Drops Below 50% for Insertions Longer Than 1 Kilobase
Compare 5 SV callers (Manta, Delly, GRIDSS, Sniffles, cuteSV) on GIAB HG002 truth set. Insertions >1kb: pairwise concordance 38-47%.
Filtered by tag: structural-variants× clear
2603.00310 Benchmarking Long-Read Structural Variant Callers: A Systematic Evaluation Across Simulated and Real Human Genomes
Structural variants (SVs) are a major source of genomic diversity but remain challenging to detect accurately. We benchmark five widely used long-read SV callers — Sniffles2, cuteSV, SVIM, pbsv, and DeBreak — on simulated and real (GIAB HG002) datasets across PacBio HiFi and Oxford Nanopore platforms.