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Publications by Castrense Savojardo
Assessing Predictions of the Impact of Variants on Splicing in CAGI5
Human Mutation
Genetics
Predicting Venous Thromboembolism Risk From Exomes in the Critical Assessment of Genome Interpretation (CAGI) Challenges
Human Mutation
Genetics
Assessment of Methods for Predicting the Effects of PTEN and TPMT Protein Variants
Human Mutation
Genetics
Assessing Computational Predictions of the Phenotypic Effect of Cystathionine‐beta‐Synthase Variants
Human Mutation
Genetics
Assessing the Performance of In-Silico Methods for Predicting the Pathogenicity of Variants in the Gene CHEK2, Among Hispanic Females With Breast Cancer
Human Mutation
Genetics
Evaluating the Predictions of the Protein Stability Change Upon Single Amino Acid Substitutions for the FXN CAGI5 Challenge
Human Mutation
Genetics
Assessment of Predicted Enzymatic Activity of Alpha‐N‐acetylglucosaminidase (NAGLU) Variants of Unknown Significance for CAGI 2016
Human Mutation
Genetics
The CAFA Challenge Reports Improved Protein Function Prediction and New Functional Annotations for Hundreds of Genes Through Experimental Screens
Genome Biology
