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Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation.
Kolmogorov M, Billingsley KJ, Mastoras M, Meredith M, Monlong J, Lorig-Roach R, Asri M, Alvarez Jerez P, Malik L, Dewan R, Reed X, Genner RM, Daida K, Behera S, Shafin K, Pesout T, Prabakaran J, Carnevali P, Yang J, Rhie A, Scholz SW, Traynor BJ, Miga KH, Jain M, Timp W, Phillippy AM, Chaisson M, Sedlazeck FJ, Blauwendraat C, Paten B. Kolmogorov M, et al. Among authors: sedlazeck fj. Nat Methods. 2023 Oct;20(10):1483-1492. doi: 10.1038/s41592-023-01993-x. Epub 2023 Sep 14. Nat Methods. 2023. PMID: 37710018
A Genocentric Approach to Discovery of Mendelian Disorders.
Hansen AW, Murugan M, Li H, Khayat MM, Wang L, Rosenfeld J, Andrews BK, Jhangiani SN, Coban Akdemir ZH, Sedlazeck FJ, Ashley-Koch AE, Liu P, Muzny DM; Task Force for Neonatal Genomics; Davis EE, Katsanis N, Sabo A, Posey JE, Yang Y, Wangler MF, Eng CM, Sutton VR, Lupski JR, Boerwinkle E, Gibbs RA. Hansen AW, et al. Among authors: sedlazeck fj. Am J Hum Genet. 2019 Nov 7;105(5):974-986. doi: 10.1016/j.ajhg.2019.09.027. Epub 2019 Oct 24. Am J Hum Genet. 2019. PMID: 31668702 Free PMC article.
SARS-CoV-2 genomic diversity and the implications for qRT-PCR diagnostics and transmission.
Sapoval N, Mahmoud M, Jochum MD, Liu Y, Elworth RAL, Wang Q, Albin D, Ogilvie HA, Lee MD, Villapol S, Hernandez KM, Maljkovic Berry I, Foox J, Beheshti A, Ternus K, Aagaard KM, Posada D, Mason CE, Sedlazeck FJ, Treangen TJ. Sapoval N, et al. Among authors: sedlazeck fj. Genome Res. 2021 Apr;31(4):635-644. doi: 10.1101/gr.268961.120. Epub 2021 Feb 18. Genome Res. 2021. PMID: 33602693 Free PMC article.
Structural variant calling: the long and the short of it.
Mahmoud M, Gobet N, Cruz-Dávalos DI, Mounier N, Dessimoz C, Sedlazeck FJ. Mahmoud M, et al. Among authors: sedlazeck fj. Genome Biol. 2019 Nov 20;20(1):246. doi: 10.1186/s13059-019-1828-7. Genome Biol. 2019. PMID: 31747936 Free PMC article. Review.
The Candida albicans Histone Acetyltransferase Hat1 Regulates Stress Resistance and Virulence via Distinct Chromatin Assembly Pathways.
Tscherner M, Zwolanek F, Jenull S, Sedlazeck FJ, Petryshyn A, Frohner IE, Mavrianos J, Chauhan N, von Haeseler A, Kuchler K. Tscherner M, et al. Among authors: sedlazeck fj. PLoS Pathog. 2015 Oct 16;11(10):e1005218. doi: 10.1371/journal.ppat.1005218. eCollection 2015 Oct. PLoS Pathog. 2015. PMID: 26473952 Free PMC article.
141 results