The Impact of Clinical and Molecular Variant Properties on Calibration and Performance of Variant Effect Prediction Tools
Ofer Isakov, Reut Fluss, Dina Marek-Yagel, Shay Ben Shachar
This study evaluates how VEP tools' performance varies with molecular and clinical factors and recalibrates their thresholds to improve pathogenicity classification.
bioRxiv · Oct 2, 2024 · PreprintBioinformatics