World Wires · Story 74897 · corroborated · 1 Quelle(n)

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

Im Desk öffnen

Berichterstattung

Was diese Seite indexiert