Extended Data Fig. 3: Comparison of false negative rates for the union of all long read-based SV discovery methods, the union of all short read-based discovery methods, and paired-end and mate-pair short read genotyping of known SVs.
From: A robust benchmark for detection of germline large deletions and insertions
Variants are stratified into deletions (top) and insertions (bottom), and into SVs overlapping (right) and not overlapping (left) tandem repeats longer than 100 bp in the reference. SVs are also stratified by size into 50 bp to 99 bp, 100 bp to 299 bp, 300 bp to 999 bp, and ≥1000 bp.
