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Page 1
The Utility of Long-Read Sequencing in Diagnosing Early Onset Parkinson's Disease.
Daida K, Yoshino H, Malik L, Baker B, Ishiguro M, Genner R, Paquette K, Li Y, Nishioka K, Masuzugawa S, Hirano M, Takahashi K, Kolmogorov M, Billingsley KJ, Funayama M, Blauwendraat C, Hattori N. Daida K, et al. Among authors: kolmogorov m. Ann Neurol. 2024 Dec 19. doi: 10.1002/ana.27155. Online ahead of print. Ann Neurol. 2024. PMID: 39699073
High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation.
Gustafson JA, Gibson SB, Damaraju N, Zalusky MPG, Hoekzema K, Twesigomwe D, Yang L, Snead AA, Richmond PA, De Coster W, Olson ND, Guarracino A, Li Q, Miller AL, Goffena J, Anderson ZB, Storz SHR, Ward SA, Sinha M, Gonzaga-Jauregui C, Clarke WE, Basile AO, Corvelo A, Reeves C, Helland A, Musunuri RL, Revsine M, Patterson KE, Paschal CR, Zakarian C, Goodwin S, Jensen TD, Robb E; 1000 Genomes ONT Sequencing Consortium; University of Washington Center for Rare Disease Research (UW-CRDR); Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; McCombie WR, Sedlazeck FJ, Zook JM, Montgomery SB, Garrison E, Kolmogorov M, Schatz MC, McLaughlin RN Jr, Dashnow H, Zody MC, Loose M, Jain M, Eichler EE, Miller DE. Gustafson JA, et al. Among authors: kolmogorov m. Genome Res. 2024 Nov 20;34(11):2061-2073. doi: 10.1101/gr.279273.124. Genome Res. 2024. PMID: 39358015 Free PMC article.
Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair.
McDaniel JH, Patel V, Olson ND, He HJ, He Z, Cole KD, Schmitt A, Sikkink K, Sedlazeck FJ, Doddapaneni H, Jhangiani SN, Muzny DM, Gingras MC, Mehta H, Paulin LF, Hastie AR, Yu HC, Weigman V, Rojas A, Kennedy K, Remington J, Gonzalez I, Sudkamp M, Wiseman K, Lajoie BR, Levy S, Jain M, Akeson S, Narzisi G, Steinsnyder Z, Reeves C, Shelton J, Kingan SB, Lambert C, Bayabyan P, Wenger AM, McLaughlin IJ, Adamson A, Kingsley C, Wescott M, Kim Y, Paten B, Park J, Violich I, Miga KH, Gardner J, McNulty B, Rosen G, McCoy R, Brundu F, Sayyari E, Scheffler K, Truong S, Catreux S, Hannah LC, Lipson D, Benjamin H, Iremadze N, Soifer I, Eacker S, Wood M, Cross E, Husar G, Gross S, Vernich M, Kolmogorov M, Ahmad T, Keskus A, Bryant A, Thibaud-Nissen F, Trow J, Proszynski J, Hirschberg JW, Ryon K, Mason CE, Wagner J, Xiao C, Liss AS, Zook JM. McDaniel JH, et al. Among authors: kolmogorov m. bioRxiv [Preprint]. 2024 Oct 18:2024.09.18.613544. doi: 10.1101/2024.09.18.613544. bioRxiv. 2024. PMID: 39345378 Free PMC article. Preprint.
Personalized pangenome references.
Sirén J, Eskandar P, Ungaro MT, Hickey G, Eizenga JM, Novak AM, Chang X, Chang PC, Kolmogorov M, Carroll A, Monlong J, Paten B. Sirén J, et al. Among authors: kolmogorov m. Nat Methods. 2024 Nov;21(11):2017-2023. doi: 10.1038/s41592-024-02407-2. Epub 2024 Sep 11. Nat Methods. 2024. PMID: 39261641
DeepSomatic: Accurate somatic small variant discovery for multiple sequencing technologies.
Park J, Cook DE, Chang PC, Kolesnikov A, Brambrink L, Mier JC, Gardner J, McNulty B, Sacco S, Keskus A, Bryant A, Ahmad T, Shetty J, Zhao Y, Tran B, Narzisi G, Helland A, Yoo B, Pushel I, Lansdon LA, Bi C, Walter A, Gibson M, Pastinen T, Farooqi MS, Robine N, Miga KH, Carroll A, Kolmogorov M, Paten B, Shafin K. Park J, et al. Among authors: kolmogorov m. bioRxiv [Preprint]. 2024 Aug 19:2024.08.16.608331. doi: 10.1101/2024.08.16.608331. bioRxiv. 2024. PMID: 39229187 Free PMC article. Preprint.
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.
Negi S, Stenton SL, Berger SI, McNulty B, Violich I, Gardner J, Hillaker T, O'Rourke SM, O'Leary MC, Carbonell E, Austin-Tse C, Lemire G, Serrano J, Mangilog B, VanNoy G, Kolmogorov M, Vilain E, O'Donnell-Luria A, Délot E, Miga KH, Monlong J, Paten B. Negi S, et al. Among authors: kolmogorov m. medRxiv [Preprint]. 2024 Aug 22:2024.08.22.24312327. doi: 10.1101/2024.08.22.24312327. medRxiv. 2024. PMID: 39228712 Free PMC article. Preprint.
Severus: accurate detection and characterization of somatic structural variation in tumor genomes using long reads.
Keskus A, Bryant A, Ahmad T, Yoo B, Aganezov S, Goretsky A, Donmez A, Lansdon LA, Rodriguez I, Park J, Liu Y, Cui X, Gardner J, McNulty B, Sacco S, Shetty J, Zhao Y, Tran B, Narzisi G, Helland A, Cook DE, Chang PC, Kolesnikov A, Carroll A, Molloy EK, Pushel I, Guest E, Pastinen T, Shafin K, Miga KH, Malikic S, Day CP, Robine N, Sahinalp C, Dean M, Farooqi MS, Paten B, Kolmogorov M. Keskus A, et al. Among authors: kolmogorov m. medRxiv [Preprint]. 2024 Mar 26:2024.03.22.24304756. doi: 10.1101/2024.03.22.24304756. medRxiv. 2024. PMID: 38585974 Free PMC article. Preprint.
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation.
Gustafson JA, Gibson SB, Damaraju N, Zalusky MP, Hoekzema K, Twesigomwe D, Yang L, Snead AA, Richmond PA, De Coster W, Olson ND, Guarracino A, Li Q, Miller AL, Goffena J, Anderson Z, Storz SH, Ward SA, Sinha M, Gonzaga-Jauregui C, Clarke WE, Basile AO, Corvelo A, Reeves C, Helland A, Musunuri RL, Revsine M, Patterson KE, Paschal CR, Zakarian C, Goodwin S, Jensen TD, Robb E; 1000 Genomes ONT Sequencing Consortium; University of Washington Center for Rare Disease Research (UW-CRDR); Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; McCombie WR, Sedlazeck FJ, Zook JM, Montgomery SB, Garrison E, Kolmogorov M, Schatz MC, McLaughlin RN Jr, Dashnow H, Zody MC, Loose M, Jain M, Eichler EE, Miller DE. Gustafson JA, et al. Among authors: kolmogorov m. medRxiv [Preprint]. 2024 Mar 7:2024.03.05.24303792. doi: 10.1101/2024.03.05.24303792. medRxiv. 2024. Update in: Genome Res. 2024 Nov 20;34(11):2061-2073. doi: 10.1101/gr.279273.124 PMID: 38496498 Free PMC article. Updated. Preprint.
Insights into the mechanisms and structure of breakage-fusion-bridge cycles in cervical cancer using long-read sequencing.
Rodriguez I, Rossi NM, Keskus AG, Xie Y, Ahmad T, Bryant A, Lou H, Paredes JG, Milano R, Rao N, Tulsyan S, Boland JF, Luo W, Liu J, O'Hanlon T, Bess J, Mukhina V, Gaykalova D, Yuki Y, Malik L, Billingsley KJ, Blauwendraat C, Carrington M, Yeager M, Mirabello L, Kolmogorov M, Dean M. Rodriguez I, et al. Among authors: kolmogorov m. Am J Hum Genet. 2024 Mar 7;111(3):544-561. doi: 10.1016/j.ajhg.2024.01.002. Epub 2024 Feb 1. Am J Hum Genet. 2024. PMID: 38307027 Free PMC article.
33 results