Author Correction: A robust benchmark for detection of germline large deletions and insertions

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buir.contributor.authorAlkan, Can
dc.citation.epage1355en_US
dc.citation.issueNumber11en_US
dc.citation.spage1347en_US
dc.citation.volumeNumber38en_US
dc.contributor.authorZook, J. M.
dc.contributor.authorHansen, N. F.
dc.contributor.authorOlson, N. D.
dc.contributor.authorChapman, L.
dc.contributor.authorMullikin, J. C.
dc.contributor.authorXiao, C.
dc.contributor.authorSherry, S.
dc.contributor.authorKoren, S.
dc.contributor.authorPhillippy, A. M.
dc.contributor.authorBoutros, P. C.
dc.contributor.authorSahraeian, S. M. E.
dc.contributor.authorHuang, V.
dc.contributor.authorRouette, A.
dc.contributor.authorAlexander, N.
dc.contributor.authorMason, C. E.
dc.contributor.authorHajirasouliha, I.
dc.contributor.authorRicketts, C.
dc.contributor.authorLee, J.
dc.contributor.authorTearle, R.
dc.contributor.authorFiddes, I. T.
dc.contributor.authorBarrio, A. M.
dc.contributor.authorWala, J.
dc.contributor.authorCarroll, A.
dc.contributor.authorGhaffari, N.
dc.contributor.authorRodriguez, O. L.
dc.contributor.authorBashir, A.
dc.contributor.authorJackman, S.
dc.contributor.authorFarrell, J. J.
dc.contributor.authorWenger, A. M.
dc.contributor.authorAlkan, Can
dc.contributor.authorSöylev, A.
dc.contributor.authorSchatz, M. C.
dc.contributor.authorGarg, S.
dc.contributor.authorChurch, G.
dc.contributor.authorMarschall, T.
dc.contributor.authorChen, K.
dc.contributor.authorFan, X.
dc.contributor.authorEnglish, A. C.
dc.contributor.authorRosenfeld, J. A.
dc.contributor.authorZhou, W.
dc.contributor.authorMills, R. E.
dc.contributor.authorSage, J. M.
dc.contributor.authorDavis, J. R.
dc.contributor.authorKaiser, M. D.
dc.contributor.authorOliver, J. S.
dc.contributor.authorCatalano, A. P.
dc.contributor.authorChaisson, M. J. P.
dc.contributor.authorSpies, N.
dc.contributor.authorSedlazeck, F. J.
dc.contributor.authorSalit, M.
dc.date.accessioned2022-04-27T14:14:13Z
dc.date.available2021-03-03T11:43:10Z
dc.date.available2022-04-27T14:14:13Z
dc.date.issued2020
dc.departmentDepartment of Computer Engineeringen_US
dc.description.abstractNew 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.en_US
dc.identifier.doi10.1038/s41587-020-0640-yen_US
dc.identifier.issn1087-0156
dc.identifier.urihttp://hdl.handle.net/11693/75718.2
dc.language.isoEnglishen_US
dc.publisherNature Researchen_US
dc.relation.isversionofhttps://doi.org/10.1038/s41587-020-0640-yen_US
dc.source.titleNature Biotechnologyen_US
dc.titleAuthor Correction: A robust benchmark for detection of germline large deletions and insertionsen_US
dc.typeArticleen_US
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