Calibration of AlphaGenome Variant Impact and SpliceAI2 scores as PP3/BP4 evidence for missense, non-coding, and synonymous variants
Computational predictions can serve as graded evidence in variant classification after calibration. We calibrated the AlphaGenome Variant Impact score (AVI) for missense variants and for six non-coding and synonymous classes, and SpliceAI2 for the six classes. For missense variants, AVI reached evidence between moderate and strong in both directions but did not outperform its component…
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