Autor: Hossameldin Loay, Prathitha Kar, Evan Koch, Vladimir Seplyarskiy, Donate Weghorn

Mutation rates vary across the genome, but most variant effect predictors interpret this variation as functional constraint. Loay et al. show that this systematically biases pathogenicity predictions, while deep mutational scanning reveals genuine muta…

Mutation rates vary across the genome, but most variant effect predictors interpret this variation as functional constraint. Loay et al. show that this systematically biases pathogenicity predictions, while deep mutational scanning reveals genuine muta…