Browsing by Author "Phillippy, A. M."

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    Author Correction: A robust benchmark for detection of germline large deletions and insertions
    (Nature Research, 2020) Zook, J. M.; Hansen, N. F.; Olson, N. D.; Chapman, L.; Mullikin, J. C.; Xiao, C.; Sherry, S.; Koren, S.; Phillippy, A. M.; Boutros, P. C.; Sahraeian, S. M. E.; Huang, V.; Rouette, A.; Alexander, N.; Mason, C. E.; Hajirasouliha, I.; Ricketts, C.; Lee, J.; Tearle, R.; Fiddes, I. T.; Barrio, A. M.; Wala, J.; Carroll, A.; Ghaffari, N.; Rodriguez, O. L.; Bashir, A.; Jackman, S.; Farrell, J. J.; Wenger, A. M.; Alkan, Can; Söylev, A.; Schatz, M. C.; Garg, S.; Church, G.; Marschall, T.; Chen, K.; Fan, X.; English, A. C.; Rosenfeld, J. A.; Zhou, W.; Mills, R. E.; Sage, J. M.; Davis, J. R.; Kaiser, M. D.; Oliver, J. S.; Catalano, A. P.; Chaisson, M. J. P.; Spies, N.; Sedlazeck, F. J.; Salit, M.
    New technologies and analysis methods are enabling genomic structural variants (SVs) to be detected with ever-increasing accuracy, resolution and comprehensiveness. To help translate these methods to routine research and clinical practice, we developed a sequence-resolved benchmark set for identification of both false-negative and false-positive germline large insertions and deletions. To create this benchmark for a broadly consented son in a Personal Genome Project trio with broadly available cells and DNA, the Genome in a Bottle Consortium integrated 19 sequence-resolved variant calling methods from diverse technologies. The final benchmark set contains 12,745 isolated, sequence-resolved insertion (7,281) and deletion (5,464) calls ≥50 base pairs (bp). The Tier 1 benchmark regions, for which any extra calls are putative false positives, cover 2.51 Gbp and 5,262 insertions and 4,095 deletions supported by ≥1 diploid assembly. We demonstrate that the benchmark set reliably identifies false negatives and false positives in high-quality SV callsets from short-, linked- and long-read sequencing and optical mapping.