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A complete reference genome improves analysis of human genetic variation.
Aganezov S, Yan SM, Soto DC, Kirsche M, Zarate S, Avdeyev P, Taylor DJ, Shafin K, Shumate A, Xiao C, Wagner J, McDaniel J, Olson ND, Sauria MEG, Vollger MR, Rhie A, Meredith M, Martin S, Lee J, Koren S, Rosenfeld JA, Paten B, Layer R, Chin CS, Sedlazeck FJ, Hansen NF, Miller DE, Phillippy AM, Miga KH, McCoy RC, Dennis MY, Zook JM, Schatz MC. Aganezov S, et al. Among authors: zook jm. Science. 2022 Apr;376(6588):eabl3533. doi: 10.1126/science.abl3533. Epub 2022 Apr 1. Science. 2022. PMID: 35357935 Free PMC article.
PEPR: pipelines for evaluating prokaryotic references.
Olson ND, Zook JM, Samarov DV, Jackson SA, Salit ML. Olson ND, et al. Among authors: zook jm. Anal Bioanal Chem. 2016 Apr;408(11):2975-83. doi: 10.1007/s00216-015-9299-5. Epub 2016 Mar 2. Anal Bioanal Chem. 2016. PMID: 26935931 Free PMC article.
Extensive sequencing of seven human genomes to characterize benchmark reference materials.
Zook JM, Catoe D, McDaniel J, Vang L, Spies N, Sidow A, Weng Z, Liu Y, Mason CE, Alexander N, Henaff E, McIntyre AB, Chandramohan D, Chen F, Jaeger E, Moshrefi A, Pham K, Stedman W, Liang T, Saghbini M, Dzakula Z, Hastie A, Cao H, Deikus G, Schadt E, Sebra R, Bashir A, Truty RM, Chang CC, Gulbahce N, Zhao K, Ghosh S, Hyland F, Fu Y, Chaisson M, Xiao C, Trow J, Sherry ST, Zaranek AW, Ball M, Bobe J, Estep P, Church GM, Marks P, Kyriazopoulou-Panagiotopoulou S, Zheng GX, Schnall-Levin M, Ordonez HS, Mudivarti PA, Giorda K, Sheng Y, Rypdal KB, Salit M. Zook JM, et al. Sci Data. 2016 Jun 7;3:160025. doi: 10.1038/sdata.2016.25. Sci Data. 2016. PMID: 27271295 Free PMC article.
Genome-wide reconstruction of complex structural variants using read clouds.
Spies N, Weng Z, Bishara A, McDaniel J, Catoe D, Zook JM, Salit M, West RB, Batzoglou S, Sidow A. Spies N, et al. Among authors: zook jm. Nat Methods. 2017 Sep;14(9):915-920. doi: 10.1038/nmeth.4366. Epub 2017 Jul 17. Nat Methods. 2017. PMID: 28714986 Free PMC article.
Tools for annotation and comparison of structural variation.
Sedlazeck FJ, Dhroso A, Bodian DL, Paschall J, Hermes F, Zook JM. Sedlazeck FJ, et al. Among authors: zook jm. F1000Res. 2017 Oct 3;6:1795. doi: 10.12688/f1000research.12516.1. eCollection 2017. F1000Res. 2017. PMID: 29123647 Free PMC article.
An open resource for accurately benchmarking small variant and reference calls.
Zook JM, McDaniel J, Olson ND, Wagner J, Parikh H, Heaton H, Irvine SA, Trigg L, Truty R, McLean CY, De La Vega FM, Xiao C, Sherry S, Salit M. Zook JM, et al. Nat Biotechnol. 2019 May;37(5):561-566. doi: 10.1038/s41587-019-0074-6. Epub 2019 Apr 1. Nat Biotechnol. 2019. PMID: 30936564 Free PMC article.
High-coverage, long-read sequencing of Han Chinese trio reference samples.
Wang YC, Olson ND, Deikus G, Shah H, Wenger AM, Trow J, Xiao C, Sherry S, Salit ML, Zook JM, Smith M, Sebra R. Wang YC, et al. Among authors: zook jm. Sci Data. 2019 Jun 14;6(1):91. doi: 10.1038/s41597-019-0098-2. Sci Data. 2019. PMID: 31201313 Free PMC article.
96 results