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MagicalRsq: Machine-learning-based genotype imputation quality calibration.
Sun Q, Yang Y, Rosen JD, Jiang MZ, Chen J, Liu W, Wen J, Raffield LM, Pace RG, Zhou YH, Wright FA, Blackman SM, Bamshad MJ, Gibson RL, Cutting GR, Knowles MR, Schrider DR, Fuchsberger C, Li Y. Sun Q, et al. Among authors: schrider dr. Am J Hum Genet. 2022 Nov 3;109(11):1986-1997. doi: 10.1016/j.ajhg.2022.09.009. Epub 2022 Oct 4. Am J Hum Genet. 2022. PMID: 36198314 Free PMC article.
De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population.
Kessler MD, Loesch DP, Perry JA, Heard-Costa NL, Taliun D, Cade BE, Wang H, Daya M, Ziniti J, Datta S, Celedón JC, Soto-Quiros ME, Avila L, Weiss ST, Barnes K, Redline SS, Vasan RS, Johnson AD, Mathias RA, Hernandez R, Wilson JG, Nickerson DA, Abecasis G, Browning SR, Zöllner S, O'Connell JR, Mitchell BD; National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Population Genetics Working Group; O'Connor TD. Kessler MD, et al. Proc Natl Acad Sci U S A. 2020 Feb 4;117(5):2560-2569. doi: 10.1073/pnas.1902766117. Epub 2020 Jan 21. Proc Natl Acad Sci U S A. 2020. PMID: 31964835 Free PMC article.
Allelic gene conversion softens selective sweeps.
Schrider DR. Schrider DR. bioRxiv [Preprint]. 2023 Dec 5:2023.12.05.570141. doi: 10.1101/2023.12.05.570141. bioRxiv. 2023. PMID: 38106127 Free PMC article. Preprint.
Expanding the stdpopsim species catalog, and lessons learned for realistic genome simulations.
Lauterbur ME, Cavassim MIA, Gladstein AL, Gower G, Pope NS, Tsambos G, Adrion J, Belsare S, Biddanda A, Caudill V, Cury J, Echevarria I, Haller BC, Hasan AR, Huang X, Iasi LNM, Noskova E, Obsteter J, Pavinato VAC, Pearson A, Peede D, Perez MF, Rodrigues MF, Smith CCR, Spence JP, Teterina A, Tittes S, Unneberg P, Vazquez JM, Waples RK, Wohns AW, Wong Y, Baumdicker F, Cartwright RA, Gorjanc G, Gutenkunst RN, Kelleher J, Kern AD, Ragsdale AP, Ralph PL, Schrider DR, Gronau I. Lauterbur ME, et al. Among authors: schrider dr. Elife. 2023 Jun 21;12:RP84874. doi: 10.7554/eLife.84874. Elife. 2023. PMID: 37342968 Free PMC article.
51 results