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Pangenome graph construction from genome alignments with Minigraph-Cactus.
Hickey G, Monlong J, Ebler J, Novak AM, Eizenga JM, Gao Y; Human Pangenome Reference Consortium; Marschall T, Li H, Paten B. Hickey G, et al. Among authors: monlong j. Nat Biotechnol. 2024 Apr;42(4):663-673. doi: 10.1038/s41587-023-01793-w. Epub 2023 May 10. Nat Biotechnol. 2024. PMID: 37165083 Free PMC article.
Genotyping structural variants in pangenome graphs using the vg toolkit.
Hickey G, Heller D, Monlong J, Sibbesen JA, Sirén J, Eizenga J, Dawson ET, Garrison E, Novak AM, Paten B. Hickey G, et al. Among authors: monlong j. Genome Biol. 2020 Feb 12;21(1):35. doi: 10.1186/s13059-020-1941-7. Genome Biol. 2020. PMID: 32051000 Free PMC article.
Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes.
Shafin K, Pesout T, Lorig-Roach R, Haukness M, Olsen HE, Bosworth C, Armstrong J, Tigyi K, Maurer N, Koren S, Sedlazeck FJ, Marschall T, Mayes S, Costa V, Zook JM, Liu KJ, Kilburn D, Sorensen M, Munson KM, Vollger MR, Monlong J, Garrison E, Eichler EE, Salama S, Haussler D, Green RE, Akeson M, Phillippy A, Miga KH, Carnevali P, Jain M, Paten B. Shafin K, et al. Among authors: monlong j. Nat Biotechnol. 2020 Sep;38(9):1044-1053. doi: 10.1038/s41587-020-0503-6. Epub 2020 May 4. Nat Biotechnol. 2020. PMID: 32686750 Free PMC article.
A strategy for building and using a human reference pangenome.
Llamas B, Narzisi G, Schneider V, Audano PA, Biederstedt E, Blauvelt L, Bradbury P, Chang X, Chin CS, Fungtammasan A, Clarke WE, Cleary A, Ebler J, Eizenga J, Sibbesen JA, Markello CJ, Garrison E, Garg S, Hickey G, Lazo GR, Lin MF, Mahmoud M, Marschall T, Minkin I, Monlong J, Musunuri RL, Sagayaradj S, Novak AM, Rautiainen M, Regier A, Sedlazeck FJ, Siren J, Souilmi Y, Wagner J, Wrightsman T, Yokoyama TT, Zeng Q, Zook JM, Paten B, Busby B. Llamas B, et al. Among authors: monlong j. F1000Res. 2019 Oct 14;8:1751. doi: 10.12688/f1000research.19630.2. eCollection 2019. F1000Res. 2019. PMID: 34386196 Free PMC article.
Pangenomics enables genotyping of known structural variants in 5202 diverse genomes.
Sirén J, Monlong J, Chang X, Novak AM, Eizenga JM, Markello C, Sibbesen JA, Hickey G, Chang PC, Carroll A, Gupta N, Gabriel S, Blackwell TW, Ratan A, Taylor KD, Rich SS, Rotter JI, Haussler D, Garrison E, Paten B. Sirén J, et al. Among authors: monlong j. Science. 2021 Dec 17;374(6574):abg8871. doi: 10.1126/science.abg8871. Epub 2021 Dec 17. Science. 2021. PMID: 34914532 Free PMC article.
Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting.
Gorzynski JE, Goenka SD, Shafin K, Jensen TD, Fisk DG, Grove ME, Spiteri E, Pesout T, Monlong J, Baid G, Bernstein JA, Ceresnak S, Chang PC, Christle JW, Chubb H, Dalton KP, Dunn K, Garalde DR, Guillory J, Knowles JW, Kolesnikov A, Ma M, Moscarello T, Nattestad M, Perez M, Ruzhnikov MRZ, Samadi M, Setia A, Wright C, Wusthoff CJ, Xiong K, Zhu T, Jain M, Sedlazeck FJ, Carroll A, Paten B, Ashley EA. Gorzynski JE, et al. Among authors: monlong j. N Engl J Med. 2022 Feb 17;386(7):700-702. doi: 10.1056/NEJMc2112090. Epub 2022 Jan 12. N Engl J Med. 2022. PMID: 35020984 No abstract available.
Ultra-Rapid Nanopore Whole Genome Genetic Diagnosis of Dilated Cardiomyopathy in an Adolescent With Cardiogenic Shock.
Gorzynski JE, Goenka SD, Shafin K, Jensen TD, Fisk DG, Grove ME, Spiteri E, Pesout T, Monlong J, Bernstein JA, Ceresnak S, Chang PC, Christle JW, Chubb H, Dunn K, Garalde DR, Guillory J, Ruzhnikov MRZ, Wright C, Wusthoff CJ, Xiong K, Hollander SA, Berry GJ, Jain M, Sedlazeck FJ, Carroll A, Paten B, Ashley EA. Gorzynski JE, et al. Among authors: monlong j. Circ Genom Precis Med. 2022 Apr;15(2):e003591. doi: 10.1161/CIRCGEN.121.003591. Epub 2022 Feb 8. Circ Genom Precis Med. 2022. PMID: 35133172 No abstract available.
Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing.
Goenka SD, Gorzynski JE, Shafin K, Fisk DG, Pesout T, Jensen TD, Monlong J, Chang PC, Baid G, Bernstein JA, Christle JW, Dalton KP, Garalde DR, Grove ME, Guillory J, Kolesnikov A, Nattestad M, Ruzhnikov MRZ, Samadi M, Sethia A, Spiteri E, Wright CJ, Xiong K, Zhu T, Jain M, Sedlazeck FJ, Carroll A, Paten B, Ashley EA. Goenka SD, et al. Among authors: monlong j. Nat Biotechnol. 2022 Jul;40(7):1035-1041. doi: 10.1038/s41587-022-01221-5. Epub 2022 Mar 28. Nat Biotechnol. 2022. PMID: 35347328 Free PMC article.
57 results