Calibration of AlphaGenome Variant Impact and SpliceAI2 scores as PP3/BP4 evidence for missense, non-coding, and synonymous variants
Ali Babazade, Yarkın Dolaş, Tarik Duzenli, Ozan Vural, Ceren Furtana, Mehmet Ali Ergün
The paper calibrates AlphaGenome Variant Impact (AVI) and SpliceAI2 scores for variant classification, showing their performance across different variant classes and comparison methods.
bioRxiv · Oct 24, 2026 · PreprintGenetics