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Publications by Emidio Capriotti

Predicting Venous Thromboembolism Risk From Exomes in the Critical Assessment of Genome Interpretation (CAGI) Challenges

Human Mutation
Genetics
2019English

Assessing Computational Predictions of the Phenotypic Effect of Cystathionine‐beta‐Synthase Variants

Human Mutation
Genetics
2019English

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
2019English

Evaluating the Predictions of the Protein Stability Change Upon Single Amino Acid Substitutions for the FXN CAGI5 Challenge

Human Mutation
Genetics
2019English

Characterization of Human Frataxin Missense Variants in Cancer Tissues

Human Mutation
Genetics
2019English

VarI-COSI 2018: A Forum for Research Advances in Variant Interpretation and Diagnostics

BMC Genomics
BiotechnologyGenetics
2019English

Quantifying the Relationship Between Sequence and Three-Dimensional Structure Conservation in RNA

BMC Bioinformatics
BiochemistryApplied MathematicsComputer Science ApplicationsStructural BiologyMolecular Biology
2010English

WS-SNPs&GO: A Web Server for Predicting the Deleterious Effect of Human Protein Variants Using Functional Annotation

BMC Genomics
BiotechnologyGenetics
2013English

VarI-SIG 2014 - From SNPs to Variants: Interpreting Different Types of Genetic Variants

BMC Genomics
BiotechnologyGenetics
2015English

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