The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity - Grimm, Dominik G.; Azencott, Chloé-Agathe; Aicheler, Fabian; Gieraths, Udo; MacArthur, Daniel G.; Samocha, Kaitlin E.; Cooper, David N.; Stenson, Peter D.; Daly, Mark J.; Smoller, Jordan W.; Duncan, Laramie E.; Borgwardt, Karsten M. (Human mutation, 2015)
Keywords: Computational Biology - methods; Datasets as Topic; exome sequencing; Genetic disorders; Humans; Internet; Life Sciences; Mutation; Mutation, Missense; pathogenicity prediction tools; Quantitative Methods; Reproducibility of Results; Software; Web Browser; pathogenicity prediction tools; exome sequencing