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86 results

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Scalable, accessible, and reproducible reference genome assembly and evaluation in Galaxy.
Larivière D, Abueg L, Brajuka N, Gallardo-Alba C, Grüning B, Ko BJ, Ostrovsky A, Palmada-Flores M, Pickett BD, Rabbani K, Balacco JR, Chaisson M, Cheng H, Collins J, Denisova A, Fedrigo O, Gallo GR, Giani AM, Gooder GM, Jain N, Johnson C, Kim H, Lee C, Marques-Bonet T, O'Toole B, Rhie A, Secomandi S, Sozzoni M, Tilley T, Uliano-Silva M, van den Beek M, Waterhouse RM, Phillippy AM, Jarvis ED, Schatz MC, Nekrutenko A, Formenti G. Larivière D, et al. Among authors: o toole b, fedrigo o. bioRxiv [Preprint]. 2023 Jun 30:2023.06.28.546576. doi: 10.1101/2023.06.28.546576. bioRxiv. 2023. PMID: 37425881 Free PMC article. Updated. Preprint.
The swan genome and transcriptome, it is not all black and white.
Karawita AC, Cheng Y, Chew KY, Challagulla A, Kraus R, Mueller RC, Tong MZW, Hulme KD, Bielefeldt-Ohmann H, Steele LE, Wu M, Sng J, Noye E, Bruxner TJ, Au GG, Lowther S, Blommaert J, Suh A, McCauley AJ, Kaur P, Dudchenko O, Aiden E, Fedrigo O, Formenti G, Mountcastle J, Chow W, Martin FJ, Ogeh DN, Thiaud-Nissen F, Howe K, Tracey A, Smith J, Kuo RI, Renfree MB, Kimura T, Sakoda Y, McDougall M, Spencer HG, Pyne M, Tolf C, Waldenström J, Jarvis ED, Baker ML, Burt DW, Short KR. Karawita AC, et al. Among authors: fedrigo o. Genome Biol. 2023 Jan 23;24(1):13. doi: 10.1186/s13059-022-02838-0. Genome Biol. 2023. PMID: 36683094 Free PMC article.
How genomics can help biodiversity conservation.
Theissinger K, Fernandes C, Formenti G, Bista I, Berg PR, Bleidorn C, Bombarely A, Crottini A, Gallo GR, Godoy JA, Jentoft S, Malukiewicz J, Mouton A, Oomen RA, Paez S, Palsbøll PJ, Pampoulie C, Ruiz-López MJ, Secomandi S, Svardal H, Theofanopoulou C, de Vries J, Waldvogel AM, Zhang G, Jarvis ED, Bálint M, Ciofi C, Waterhouse RM, Mazzoni CJ, Höglund J; European Reference Genome Atlas Consortium. Theissinger K, et al. Trends Genet. 2023 Jul;39(7):545-559. doi: 10.1016/j.tig.2023.01.005. Epub 2023 Feb 16. Trends Genet. 2023. PMID: 36801111 Free article. Review.
A high-quality reference genome for the critically endangered Aeolian wall lizard, Podarcis raffonei.
Gabrielli M, Benazzo A, Biello R, Ancona L, Fuselli S, Iannucci A, Balacco J, Mountcastle J, Tracey A, Ficetola GF, Salvi D, Sollitto M, Fedrigo O, Formenti G, Jarvis ED, Gerdol M, Ciofi C, Trucchi E, Bertorelle G. Gabrielli M, et al. Among authors: fedrigo o. J Hered. 2023 May 25;114(3):279-285. doi: 10.1093/jhered/esad014. J Hered. 2023. PMID: 36866448
An improved germline genome assembly for the sea lamprey Petromyzon marinus illuminates the evolution of germline-specific chromosomes.
Timoshevskaya N, Eşkut KI, Timoshevskiy VA, Robb SMC, Holt C, Hess JE, Parker HJ, Baker CF, Miller AK, Saraceno C, Yandell M, Krumlauf R, Narum SR, Lampman RT, Gemmell NJ, Mountcastle J, Haase B, Balacco JR, Formenti G, Pelan S, Sims Y, Howe K, Fedrigo O, Jarvis ED, Smith JJ. Timoshevskaya N, et al. Among authors: fedrigo o. Cell Rep. 2023 Mar 28;42(3):112263. doi: 10.1016/j.celrep.2023.112263. Epub 2023 Mar 15. Cell Rep. 2023. PMID: 36930644 Free PMC article.
Gaps and complex structurally variant loci in phased genome assemblies.
Porubsky D, Vollger MR, Harvey WT, Rozanski AN, Ebert P, Hickey G, Hasenfeld P, Sanders AD, Stober C; Human Pangenome Reference Consortium; Korbel JO, Paten B, Marschall T, Eichler EE. Porubsky D, et al. Genome Res. 2023 Apr;33(4):496-510. doi: 10.1101/gr.277334.122. Epub 2023 May 10. Genome Res. 2023. PMID: 37164484 Free PMC article.
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.
Increased mutation and gene conversion within human segmental duplications.
Vollger MR, Dishuck PC, Harvey WT, DeWitt WS, Guitart X, Goldberg ME, Rozanski AN, Lucas J, Asri M; Human Pangenome Reference Consortium; Munson KM, Lewis AP, Hoekzema K, Logsdon GA, Porubsky D, Paten B, Harris K, Hsieh P, Eichler EE. Vollger MR, et al. Nature. 2023 May;617(7960):325-334. doi: 10.1038/s41586-023-05895-y. Epub 2023 May 10. Nature. 2023. PMID: 37165237 Free PMC article.
Recombination between heterologous human acrocentric chromosomes.
Guarracino A, Buonaiuto S, de Lima LG, Potapova T, Rhie A, Koren S, Rubinstein B, Fischer C; Human Pangenome Reference Consortium; Gerton JL, Phillippy AM, Colonna V, Garrison E. Guarracino A, et al. Nature. 2023 May;617(7960):335-343. doi: 10.1038/s41586-023-05976-y. Epub 2023 May 10. Nature. 2023. PMID: 37165241 Free PMC article.
86 results