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Frequency and spectrum of mutations in human sperm measured using duplex sequencing correlate with trio-based de novo mutation analyses.
Axelsson J, LeBlanc D, Shojaeisaadi H, Meier MJ, Fitzgerald DM, Nachmanson D, Carlson J, Golubeva A, Higgins J, Smith T, Lo FY, Pilsner R, Williams A, Salk J, Marchetti F, Yauk C. Axelsson J, et al. Among authors: yauk c. Sci Rep. 2024 Oct 8;14(1):23134. doi: 10.1038/s41598-024-73587-2. Sci Rep. 2024. PMID: 39379474 Free PMC article.
Duplex sequencing provides detailed characterization of mutation frequencies and spectra in the bone marrow of MutaMouse males exposed to procarbazine hydrochloride.
Dodge AE, LeBlanc DPM, Zhou G, Williams A, Meier MJ, Van P, Lo FY, Valentine Iii CC, Salk JJ, Yauk CL, Marchetti F. Dodge AE, et al. Among authors: yauk cl. Arch Toxicol. 2023 Aug;97(8):2245-2259. doi: 10.1007/s00204-023-03527-y. Epub 2023 Jun 21. Arch Toxicol. 2023. PMID: 37341741 Free PMC article.
Error-corrected duplex sequencing enables direct detection and quantification of mutations in human TK6 cells with strong inter-laboratory consistency.
Cho E, Swartz CD, Williams A, V Rivas M, Recio L, Witt KL, Schmidt EK, Yaplee J, Smith TH, Van P, Lo FY, Valentine CC 3rd, Salk JJ, Marchetti F, Smith-Roe SL, Yauk CL. Cho E, et al. Among authors: yauk cl. Mutat Res Genet Toxicol Environ Mutagen. 2023 Jul;889:503649. doi: 10.1016/j.mrgentox.2023.503649. Epub 2023 May 20. Mutat Res Genet Toxicol Environ Mutagen. 2023. PMID: 37491114 Free PMC article.
251 results