A robust benchmark for germline structural variant detection
Justin M. Zook, Nancy Fisher Hansen, Nathan D. Olson, Lesley M. Chapman, James C. Mullikin, Chunlin Xiao, Stephen T. Sherry, Sergey Koren, Adam M. Phillippy, Paul Christopher Boutros, Sayed Mohammad Ebrahim Sahraeian, Vincent Huang, Alexandre Rouette, Noah Alexander, Christopher E. Mason, , Marc Salit
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.
bioRxiv · Jul 18, 2019 · PreprintGenomics