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ARIC Publications

Filters: Keyword is DNA Mutational Analysis  [Clear All Filters]
Seplyarskiy VB, Soldatov RA, Koch E, et al. "Population sequencing data reveal a compendium of mutational processes in the human germ line." Science. 2021;373(6558):1030-1035.
Kessler MD, Loesch DP, Perry JA, et al. "De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population." Proc Natl Acad Sci U S A. 2020;117(5):2560-2569.
Beck TF, Campeau PM, Jhangiani SN, et al. "FBN1 contributing to familial congenital diaphragmatic hernia." Am J Med Genet A. 2015;167A(4):831-6.
Wang QY, Song J, Gibbs RA, Boerwinkle E, Dong JF. "Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes." J Thromb Haemost. 2013;11(2):261-9.