Michael D. Kaiser

Genome in a Bottle benchmark of 12745 sequence-resolved insertions and deletions of 50 bp or more, integrating 19 calling methods, scores false negatives and false positives alike.

SV-Verify uses HD-Mapping data to verify structural variants ≥300 bp with high sensitivity and specificity.

The paper introduces a solid-state detector that generates high-density genome maps from single molecule data by measuring physical distances between sequence-specific tags.