Article
Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations.
PLoS genetics - 1 Apr 2017
Nielsen Sofie V, Stein Amelie, Dinitzen Alexander B, Papaleo Elena, Tatham Michael H, Poulsen Esben G, Kassem Maher M, Rasmussen Lene J, Lindorff-Larsen Kresten, Hartmann-Petersen Rasmus
Abstract excerpt
Accurate methods to assess the pathogenicity of mutations are needed to fully leverage the possibilities of genome sequencing in diagnosis. Current data-driven and bioinformatics approaches are, however, limited by the large number of new variations found in each newly sequenced genome, and often do not provide direct mechanistic insight. Here we demonstrate, for the first time, that saturation mutagenesis,...
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