QAFI: A Novel Method for Quantitative Estimation of Missense Variant Impact Using Protein-Specific Predictors and Ensemble Learning
Selen Ozkan,
Natàlia Padilla,
Xavier de la Cruz
Abstract:Next-generation sequencing (NGS) has revolutionized genetic diagnostics, yet its application in precision medicine remains incomplete, despite significant advances in computational tools for variant annotation. Many variants remain unannotated, and existing tools often fail to accurately predict the range of impacts that variants have on protein function. This limitation restricts their utility in relevant applications such as predicting disease severity and onset age. In response to these challenges, a new ge… Show more
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