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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, Jerez PA, Malik L, Dewan R, Reed X, Genner RM, Daida K, Behera S, Shafin K, Pesout T, Prabakaran J, Carnevali P; North American Brain Expression Consortium (NABEC); 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: behera s. bioRxiv [Preprint]. 2023 Apr 5:2023.01.12.523790. doi: 10.1101/2023.01.12.523790. bioRxiv. 2023. Update in: Nat Methods. 2023 Oct;20(10):1483-1492. doi: 10.1038/s41592-023-01993-x PMID: 36711673 Free PMC article. Updated. Preprint.
The third international hackathon for applying insights into large-scale genomic composition to use cases in a wide range of organisms.
Walker K, Kalra D, Lowdon R, Chen G, Molik D, Soto DC, Dabbaghie F, Khleifat AA, Mahmoud M, Paulin LF, Raza MS, Pfeifer SP, Agustinho DP, Aliyev E, Avdeyev P, Barrozo ER, Behera S, Billingsley K, Chong LC, Choubey D, De Coster W, Fu Y, Gener AR, Hefferon T, Henke DM, Höps W, Illarionova A, Jochum MD, Jose M, Kesharwani RK, Kolora SRR, Kubica J, Lakra P, Lattimer D, Liew CS, Lo BW, Lo C, Lötter A, Majidian S, Mendem SK, Mondal R, Ohmiya H, Parvin N, Peralta C, Poon CL, Prabhakaran R, Saitou M, Sammi A, Sanio P, Sapoval N, Syed N, Treangen T, Wang G, Xu T, Yang J, Zhang S, Zhou W, Sedlazeck FJ, Busby B. Walker K, et al. Among authors: behera s. F1000Res. 2022 May 16;11:530. doi: 10.12688/f1000research.110194.1. eCollection 2022. F1000Res. 2022. PMID: 36262335 Free PMC article.
FixItFelix: improving genomic analysis by fixing reference errors.
Behera S, LeFaive J, Orchard P, Mahmoud M, Paulin LF, Farek J, Soto DC, Parker SCJ, Smith AV, Dennis MY, Zook JM, Sedlazeck FJ. Behera S, et al. Genome Biol. 2023 Feb 21;24(1):31. doi: 10.1186/s13059-023-02863-7. Genome Biol. 2023. PMID: 36810122 Free PMC article.
Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk.
Behera S, Belyeu JR, Chen X, Paulin LF, Nguyen NQH, Newman E, Mahmoud M, Menon VK, Qi Q, Joshi P, Marcovina S, Rossi M, Roller E, Han J, Onuchic V, Avery CL, Ballantyne CM, Rodriguez CJ, Kaplan RC, Muzny DM, Metcalf GA, Gibbs R, Yu B, Boerwinkle E, Eberle MA, Sedlazeck FJ. Behera S, et al. bioRxiv [Preprint]. 2023 Apr 27:2023.04.24.538128. doi: 10.1101/2023.04.24.538128. bioRxiv. 2023. Update in: BMC Med Genomics. 2024 Oct 24;17(1):255. doi: 10.1186/s12920-024-02024-0 PMID: 37163057 Free PMC article. Updated. Preprint.
Single-cell somatic copy number variants in brain using different amplification methods and reference genomes.
Kalef-Ezra E, Turan ZG, Perez-Rodriguez D, Bomann I, Behera S, Morley C, Scholz SW, Jaunmuktane Z, Demeulemeester J, Sedlazeck FJ, Proukakis C. Kalef-Ezra E, et al. Among authors: behera s. bioRxiv [Preprint]. 2023 Nov 21:2023.08.07.552289. doi: 10.1101/2023.08.07.552289. bioRxiv. 2023. Update in: Commun Biol. 2024 Oct 9;7(1):1288. doi: 10.1038/s42003-024-06940-w PMID: 37609320 Free PMC article. Updated. Preprint.
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: behera s. Nat Methods. 2023 Oct;20(10):1483-1492. doi: 10.1038/s41592-023-01993-x. Epub 2023 Sep 14. Nat Methods. 2023. PMID: 37710018 Free PMC article.
Detection of mosaic and population-level structural variants with Sniffles2.
Smolka M, Paulin LF, Grochowski CM, Horner DW, Mahmoud M, Behera S, Kalef-Ezra E, Gandhi M, Hong K, Pehlivan D, Scholz SW, Carvalho CMB, Proukakis C, Sedlazeck FJ. Smolka M, et al. Among authors: behera s. Nat Biotechnol. 2024 Oct;42(10):1571-1580. doi: 10.1038/s41587-023-02024-y. Epub 2024 Jan 2. Nat Biotechnol. 2024. PMID: 38168980 Free PMC article.
Comprehensive and accurate genome analysis at scale using DRAGEN accelerated algorithms.
Behera S, Catreux S, Rossi M, Truong S, Huang Z, Ruehle M, Visvanath A, Parnaby G, Roddey C, Onuchic V, Cameron DL, English A, Mehtalia S, Han J, Mehio R, Sedlazeck FJ. Behera S, et al. bioRxiv [Preprint]. 2024 Jan 6:2024.01.02.573821. doi: 10.1101/2024.01.02.573821. bioRxiv. 2024. PMID: 38260545 Free PMC article. Preprint.
932 results