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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: phillippy am. bioRxiv [Preprint]. 2023 Apr 5:2023.01.12.523790. doi: 10.1101/2023.01.12.523790. bioRxiv. 2023. PMID: 36711673 Free PMC article. Updated. Preprint.
Low mutation rate in epaulette sharks is consistent with a slow rate of evolution in sharks.
Sendell-Price AT, Tulenko FJ, Pettersson M, Kang D, Montandon M, Winkler S, Kulb K, Naylor GP, Phillippy A, Fedrigo O, Mountcastle J, Balacco JR, Dutra A, Dale RE, Haase B, Jarvis ED, Myers G, Burgess SM, Currie PD, Andersson L, Schartl M. Sendell-Price AT, et al. Nat Commun. 2023 Oct 19;14(1):6628. doi: 10.1038/s41467-023-42238-x. Nat Commun. 2023. PMID: 37857613 Free PMC article.
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: phillippy am. Nat Methods. 2023 Oct;20(10):1483-1492. doi: 10.1038/s41592-023-01993-x. Epub 2023 Sep 14. Nat Methods. 2023. PMID: 37710018
Population genomics of the critically endangered kākāpō.
Dussex N, van der Valk T, Morales HE, Wheat CW, Díez-Del-Molino D, von Seth J, Foster Y, Kutschera VE, Guschanski K, Rhie A, Phillippy AM, Korlach J, Howe K, Chow W, Pelan S, Mendes Damas JD, Lewin HA, Hastie AR, Formenti G, Fedrigo O, Guhlin J, Harrop TWR, Le Lec MF, Dearden PK, Haggerty L, Martin FJ, Kodali V, Thibaud-Nissen F, Iorns D, Knapp M, Gemmell NJ, Robertson F, Moorhouse R, Digby A, Eason D, Vercoe D, Howard J, Jarvis ED, Robertson BC, Dalén L. Dussex N, et al. Among authors: phillippy am. Cell Genom. 2021 Sep 8;1(1):100002. doi: 10.1016/j.xgen.2021.100002. eCollection 2021 Oct 13. Cell Genom. 2021. PMID: 36777713 Free PMC article.
The variation and evolution of complete human centromeres.
Logsdon GA, Rozanski AN, Ryabov F, Potapova T, Shepelev VA, Mao Y, Rautiainen M, Koren S, Nurk S, Porubsky D, Lucas JK, Hoekzema K, Munson KM, Gerton JL, Phillippy AM, Alexandrov IA, Eichler EE. Logsdon GA, et al. Among authors: phillippy am. bioRxiv [Preprint]. 2023 May 30:2023.05.30.542849. doi: 10.1101/2023.05.30.542849. bioRxiv. 2023. PMID: 37398417 Free PMC article. Updated. Preprint.
147 results