Ensemble variant interpretation methods to predict enzyme activity and assign pathogenicity in the CAGI4 NAGLU (Human N-acetyl-glucosaminidase) and UBE2I (Human SUMO-ligase) challenges.

Abstract excerpt

CAGI (Critical Assessment of Genome Interpretation) conducts community experiments to determine the state of the art in relating genotype to phenotype. Here, we report results obtained using newly developed ensemble methods to address two CAGI4 challenges: enzyme activity for population missense variants found in NAGLU (Human N-acetyl-glucosaminidase) and random missense mutations in Human UBE2I (Human SUMO E2...

Topics

• Acetylglucosaminidase
• Computational Biology
• Databases, Genetic
• Humans
• Machine Learning
• Mutation, Missense
• Phenotype
• ROC Curve
• Reproducibility of Results
• Ubiquitin-Conjugating Enzymes