Tools to Predict the Impact of Missense Variants !
...a comparative evaluation of these tools is hindered by two types of circularity: they arise due to (1) the sa...arative evaluations of predictors that do not address these types of circularity may erroneously conclude that...2216 days ago
Tools to Predict the Impact of Missense Variants !
Prioritizing missense variants for further experimental investigation is a key challenge in current sequencing studies for exploring complex and Mendelian diseases. A large number of in silico tools have been employed for the task of pathogenicity prediction, including PolyPhen‐2, SIFT,...Tags: Evaluation, Tools, Predict, Missense, Variants, Hindered, Circularity
2216 days ago