Choosing variant interpretation tools for clinical applications: context matters
Josu Aguirre, Natàlia Padilla, Selen Özkan, Casandra Riera, Lídia Feliubadaló, Xavier de la Cruz
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.
International Journal of Molecular Sciences · Jul 24, 2023Peer-reviewedBioinformatics