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2021 2
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Page 1
Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition.
Vollger MR, Korlach J, Eldred KC, Swanson E, Underwood JG, Bohaczuk SC, Mao Y, Cheng YH, Ranchalis J, Blue EE, Schwarze U, Munson KM, Saunders CT, Wenger AM, Allworth A, Chanprasert S, Duerden BL, Glass I, Horike-Pyne M, Kim M, Leppig KA, McLaughlin IJ, Ogawa J, Rosenthal EA, Sheppeard S, Sherman SM, Strohbehn S, Yuen AL, Stacey AW; University of Washington Center for Rare Disease Research; Undiagnosed Diseases Network; Reh TA, Byers PH, Bamshad MJ, Hisama FM, Jarvik GP, Sancak Y, Dipple KM, Stergachis AB. Vollger MR, et al. Nat Genet. 2025 Feb;57(2):469-479. doi: 10.1038/s41588-024-02067-0. Epub 2025 Jan 29. Nat Genet. 2025. PMID: 39880924 Free PMC article.
DNA-m6A calling and integrated long-read epigenetic and genetic analysis with fibertools.
Jha A, Bohaczuk SC, Mao Y, Ranchalis J, Mallory BJ, Min AT, Hamm MO, Swanson E, Dubocanin D, Finkbeiner C, Li T, Whittington D, Noble WS, Stergachis AB, Vollger MR. Jha A, et al. bioRxiv [Preprint]. 2023 Dec 11:2023.04.20.537673. doi: 10.1101/2023.04.20.537673. bioRxiv. 2023. Update in: Genome Res. 2024 Nov 20;34(11):1976-1986. doi: 10.1101/gr.279095.124. PMID: 37131601 Free PMC article. Updated. Preprint.
3-hour genome sequencing and targeted analysis to rapidly assess genetic risk.
Zalusky MP, Gustafson JA, Bohaczuk SC, Mallory B, Reed P, Wenger T, Beckman E, Chang IJ, Paschal CR, Buchan JG, Lockwood CM, Puia-Dumitrescu M, Garalde DR, Guillory J, Markham AJ, Bamshad MJ, Eichler EE, Stergachis AB, Miller DE. Zalusky MP, et al. Genet Med Open. 2024;2:101833. doi: 10.1016/j.gimo.2024.101833. Epub 2024 Feb 24. Genet Med Open. 2024. PMID: 39421454 Free PMC article.
Resolving the chromatin impact of mosaic variants with targeted Fiber-seq.
Bohaczuk SC, Amador ZJ, Li C, Mallory BJ, Swanson EG, Ranchalis J, Vollger MR, Munson KM, Walsh T, Hamm MO, Mao Y, Lieber A, Stergachis AB. Bohaczuk SC, et al. Genome Res. 2024 Dec 23;34(12):2269-2278. doi: 10.1101/gr.279747.124. Genome Res. 2024. PMID: 39653420 Free PMC article.
Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition.
Vollger MR, Korlach J, Eldred KC, Swanson E, Underwood JG, Cheng YH, Ranchalis J, Mao Y, Blue EE, Schwarze U, Munson KM, Saunders CT, Wenger AM, Allworth A, Chanprasert S, Duerden BL, Glass I, Horike-Pyne M, Kim M, Leppig KA, McLaughlin IJ, Ogawa J, Rosenthal EA, Sheppeard S, Sherman SM, Strohbehn S, Yuen AL; University of Washington Center for Mendelian Genomics (UW-CMG), Undiagnosed Diseases Network (UDN); Reh TA, Byers PH, Bamshad MJ, Hisama FM, Jarvik GP, Sancak Y, Dipple KM, Stergachis AB. Vollger MR, et al. bioRxiv [Preprint]. 2023 Sep 27:2023.09.26.559521. doi: 10.1101/2023.09.26.559521. bioRxiv. 2023. Update in: Nat Genet. 2025 Feb;57(2):469-479. doi: 10.1038/s41588-024-02067-0. PMID: 37808736 Free PMC article. Updated. Preprint.
The regulatory potential of transposable elements in maize.
Bubb KL, Hamm MO, Tullius TW, Min JK, Ramirez-Corona B, Mueth NA, Ranchalis J, Mao Y, Bergstrom EJ, Vollger MR, Trapnell C, Cuperus JT, Stergachis AB, Queitsch C. Bubb KL, et al. bioRxiv [Preprint]. 2025 Jan 31:2024.07.10.602892. doi: 10.1101/2024.07.10.602892. bioRxiv. 2025. Update in: Nat Plants. 2025 Jun;11(6):1181-1192. doi: 10.1038/s41477-025-02002-z. PMID: 39026747 Free PMC article. Updated. Preprint.
22 results