- University / research
- Country: United States
Beyond a single threshold: calibration of CADD v1.7 and AlphaGenome for ACMG/AMP computational evidence across variant classes, model versions, and reference data
Clinical laboratories use computational predictors as supporting evidence for or against pathogenicity under the ACMG/AMP guidelines, but this evidence is reliable only when score thresholds are calibrated. Genome-wide predictors such as CADD are often applied using a single cutoff across all…