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Page 1
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: mcnulty b. medRxiv [Preprint]. 2024 Aug 22:2024.08.22.24312327. doi: 10.1101/2024.08.22.24312327. medRxiv. 2024. PMID: 39228712 Free PMC article. Preprint.
Phased nanopore assembly with Shasta and modular graph phasing with GFAse.
Lorig-Roach R, Meredith M, Monlong J, Jain M, Olsen H, McNulty B, Porubsky D, Montague T, Lucas J, Condon C, Eizenga J, Juul S, McKenzie S, Simmonds SE, Park J, Asri M, Koren S, Eichler E, Axel R, Martin B, Carnevali P, Miga K, Paten B. Lorig-Roach R, et al. Among authors: mcnulty b. bioRxiv [Preprint]. 2023 Feb 22:2023.02.21.529152. doi: 10.1101/2023.02.21.529152. bioRxiv. 2023. Update in: Genome Res. 2024 Apr 25;34(3):454-468. doi: 10.1101/gr.278268.123 PMID: 36865218 Free PMC article. Updated. Preprint.
Local read haplotagging enables accurate long-read small variant calling.
Kolesnikov A, Cook D, Nattestad M, McNulty B, Gorzynski J, Goenka S, Ashley EA, Jain M, Miga KH, Paten B, Chang PC, Carroll A, Shafin K. Kolesnikov A, et al. Among authors: mcnulty b. bioRxiv [Preprint]. 2023 Sep 12:2023.09.07.556731. doi: 10.1101/2023.09.07.556731. bioRxiv. 2023. Update in: Nat Commun. 2024 Jul 13;15(1):5907. doi: 10.1038/s41467-024-50079-5 PMID: 37745389 Free PMC article. Updated. Preprint.
Gapless assembly of complete human and plant chromosomes using only nanopore sequencing.
Koren S, Bao Z, Guarracino A, Ou S, Goodwin S, Jenike KM, Lucas J, McNulty B, Park J, Rautiainen M, Rhie A, Roelofs D, Schneiders H, Vrijenhoek I, Nijbroek K, Ware D, Schatz MC, Garrison E, Huang S, McCombie WR, Miga KH, Wittenberg AHJ, Phillippy AM. Koren S, et al. Among authors: mcnulty b. bioRxiv [Preprint]. 2024 Mar 19:2024.03.15.585294. doi: 10.1101/2024.03.15.585294. bioRxiv. 2024. Update in: Genome Res. 2024 Nov 20;34(11):1919-1930. doi: 10.1101/gr.279334.124 PMID: 38529488 Free PMC article. Updated. 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: mcnulty b. medRxiv [Preprint]. 2024 Mar 26:2024.03.22.24304756. doi: 10.1101/2024.03.22.24304756. medRxiv. 2024. PMID: 38585974 Free PMC article. Preprint.
Phased nanopore assembly with Shasta and modular graph phasing with GFAse.
Lorig-Roach R, Meredith M, Monlong J, Jain M, Olsen HE, McNulty B, Porubsky D, Montague TG, Lucas JK, Condon C, Eizenga JM, Juul S, McKenzie SK, Simmonds SE, Park J, Asri M, Koren S, Eichler EE, Axel R, Martin B, Carnevali P, Miga KH, Paten B. Lorig-Roach R, et al. Among authors: mcnulty b. Genome Res. 2024 Apr 25;34(3):454-468. doi: 10.1101/gr.278268.123. Genome Res. 2024. PMID: 38627094 Free PMC article.
Local read haplotagging enables accurate long-read small variant calling.
Kolesnikov A, Cook D, Nattestad M, Brambrink L, McNulty B, Gorzynski J, Goenka S, Ashley EA, Jain M, Miga KH, Paten B, Chang PC, Carroll A, Shafin K. Kolesnikov A, et al. Among authors: mcnulty b. Nat Commun. 2024 Jul 13;15(1):5907. doi: 10.1038/s41467-024-50079-5. Nat Commun. 2024. PMID: 39003259 Free PMC article.
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: mcnulty b. bioRxiv [Preprint]. 2024 Aug 19:2024.08.16.608331. doi: 10.1101/2024.08.16.608331. bioRxiv. 2024. PMID: 39229187 Free PMC article. Preprint.
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: mcnulty b. bioRxiv [Preprint]. 2024 Oct 18:2024.09.18.613544. doi: 10.1101/2024.09.18.613544. bioRxiv. 2024. PMID: 39345378 Free PMC article. Preprint.
Gapless assembly of complete human and plant chromosomes using only nanopore sequencing.
Koren S, Bao Z, Guarracino A, Ou S, Goodwin S, Jenike KM, Lucas J, McNulty B, Park J, Rautiainen M, Rhie A, Roelofs D, Schneiders H, Vrijenhoek I, Nijbroek K, Nordesjo O, Nurk S, Vella M, Lawrence KR, Ware D, Schatz MC, Garrison E, Huang S, McCombie WR, Miga KH, Wittenberg AHJ, Phillippy AM. Koren S, et al. Among authors: mcnulty b. Genome Res. 2024 Nov 20;34(11):1919-1930. doi: 10.1101/gr.279334.124. Genome Res. 2024. PMID: 39505490
219 results