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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 9. doi: 10.1101/gr.279747.124. Online ahead of print. Genome Res. 2024. PMID: 39653420
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. Among authors: bohaczuk sc. 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.
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: bohaczuk sc. 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.