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Page 1
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. Among authors: ranchalis j. Genome Res. 2024 Dec 23;34(12):2269-2278. doi: 10.1101/gr.279747.124. Genome Res. 2024. PMID: 39653420
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. Among authors: ranchalis j. bioRxiv [Preprint]. 2024 Jul 13:2024.07.09.602608. doi: 10.1101/2024.07.09.602608. bioRxiv. 2024. Update in: Genome Res. 2024 Dec 23;34(12):2269-2278. doi: 10.1101/gr.279747.124 PMID: 39026856 Free PMC article. Updated. Preprint.
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. Among authors: ranchalis j. 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.
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. Among authors: ranchalis j. bioRxiv [Preprint]. 2023 Sep 27:2023.09.26.559521. doi: 10.1101/2023.09.26.559521. bioRxiv. 2023. PMID: 37808736 Free PMC article. Preprint.
The regulatory potential of transposable elements in maize.
Bubb KL, Hamm MO, Min JK, Ramirez-Corona B, Mueth NA, Ranchalis J, Vollger MR, Trapnell C, Cuperus JT, Queitsch C, Stergachis AB. Bubb KL, et al. Among authors: ranchalis j. bioRxiv [Preprint]. 2024 Jul 14:2024.07.10.602892. doi: 10.1101/2024.07.10.602892. bioRxiv. 2024. PMID: 39026747 Free PMC article. Preprint.
STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179.
Grasberger H, Dumitrescu AM, Liao XH, Swanson EG, Weiss RE, Srichomkwun P, Pappa T, Chen J, Yoshimura T, Hoffmann P, França MM, Tagett R, Onigata K, Costagliola S, Ranchalis J, Vollger MR, Stergachis AB, Chong JX, Bamshad MJ, Smits G, Vassart G, Refetoff S. Grasberger H, et al. Among authors: ranchalis j. Nat Genet. 2024 May;56(5):877-888. doi: 10.1038/s41588-024-01717-7. Epub 2024 May 7. Nat Genet. 2024. PMID: 38714869 Free PMC article.
Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A.
Stergachis AB, Blue EE, Gillentine MA, Wang LK, Schwarze U, Cortés AS, Ranchalis J, Allworth A, Bland AE, Chanprasert S, Chen J, Doherty D, Folta AB, Glass I, Horike-Pyne M, Huang AY, Khan AT, Leppig KA, Miller DE, Mirzaa G, Parhin A, Raskind W, Rosenthal EA, Sheppeard S, Strohbehn S, Sybert VP, Tran TT, Wener M; University of Washington Center for Mendelian Genomics (UW-CMG), Undiagnosed Diseases Network (UDN); Byers PH, Nelson SF, Bamshad MJ, Dipple KM, Jarvik GP, Hoppins S, Hisama FM. Stergachis AB, et al. Among authors: ranchalis j. bioRxiv [Preprint]. 2023 Feb 7:2023.02.07.526487. doi: 10.1101/2023.02.07.526487. bioRxiv. 2023. Update in: Neurol Genet. 2023 Aug 8;9(5):e200090. doi: 10.1212/NXG.0000000000200090 PMID: 36798371 Free PMC article. Updated. Preprint.
60 results