Lídia Feliubadaló

The paper introduces cost models to compare pathogenicity predictors in clinical contexts, showing no optimal predictor exists for all scenarios and highlighting the importance of rejection classifiers.

This paper evaluates methods to incorporate alternative polygenic risk scores into the BOADICEA breast cancer risk prediction model, finding that retrospective likelihood approaches provide more accurate estimates.

This study benchmarks CNV detection tools on NGS panel data for genetic diagnostics, finding DECoN and panelcn.MOPS suitable as screening methods with optimized parameters.