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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: miga kh. medRxiv [Preprint]. 2024 Aug 22:2024.08.22.24312327. doi: 10.1101/2024.08.22.24312327. medRxiv. 2024. PMID: 39228712 Free PMC article. Preprint.
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: miga kh. Nat Commun. 2024 Jul 13;15(1):5907. doi: 10.1038/s41467-024-50079-5. Nat Commun. 2024. PMID: 39003259 Free PMC article.
The UCSC Genome Browser database: 2024 update.
Raney BJ, Barber GP, Benet-Pagès A, Casper J, Clawson H, Cline MS, Diekhans M, Fischer C, Navarro Gonzalez J, Hickey G, Hinrichs AS, Kuhn RM, Lee BT, Lee CM, Le Mercier P, Miga KH, Nassar LR, Nejad P, Paten B, Perez G, Schmelter D, Speir ML, Wick BD, Zweig AS, Haussler D, Kent WJ, Haeussler M. Raney BJ, et al. Among authors: miga kh. Nucleic Acids Res. 2024 Jan 5;52(D1):D1082-D1088. doi: 10.1093/nar/gkad987. Nucleic Acids Res. 2024. PMID: 37953330 Free PMC article.
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: miga kh. 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.
From complete genomes to pangenomes.
Miga KH. Miga KH. Am J Hum Genet. 2024 Jul 11;111(7):1265-1268. doi: 10.1016/j.ajhg.2024.05.012. Am J Hum Genet. 2024. PMID: 38996470
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: miga kh. 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.
The Ruminant Telomere-to-Telomere (RT2T) Consortium.
Kalbfleisch TS, McKay SD, Murdoch BM, Adelson DL, Almansa-Villa D, Becker G, Beckett LM, Benítez-Galeano MJ, Biase F, Casey T, Chuong E, Clark E, Clarke S, Cockett N, Couldrey C, Davis BW, Elsik CG, Faraut T, Gao Y, Genet C, Grady P, Green J, Green R, Guan D, Hagen D, Hartley GA, Heaton M, Hoyt SJ, Huang W, Jarvis E, Kalleberg J, Khatib H, Koepfi KP, Koltes J, Koren S, Kuehn C, Leeb T, Leonard A, Liu GE, Low WY, McConnell H, McRae K, Miga K, Mousel M, Neibergs H, Olagunju T, Pennell M, Petry B, Pewsner M, Phillippy AM, Pickett BD, Pineda P, Potapova T, Rachagani S, Rhie A, Rijnkels M, Robic A, Rodriguez Osorio N, Safonova Y, Schettini G, Schnabel RD, Sirpu Natesh N, Stegemiller M, Storer J, Stothard P, Stull C, Tosser-Klopp G, Traglia GM, Tuggle CK, Van Tassell CP, Watson C, Weikard R, Wimmers K, Xie S, Yang L, Smith TPL, O'Neill RJ, Rosen BD. Kalbfleisch TS, et al. Nat Genet. 2024 Aug;56(8):1566-1573. doi: 10.1038/s41588-024-01835-2. Epub 2024 Aug 5. Nat Genet. 2024. PMID: 39103649 Review.
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. 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.
77 results