Christopher Edward Eisenhart

The paper derives empirically calibrated allele frequency thresholds for ACMG variant classification criteria, showing they vary by gene and inheritance mode, improving accuracy over fixed defaults.

PHARMWATCH improves pharmacogenomics safety by identifying genomic alterations that affect star allele accuracy, enabling more reliable drug dosage recommendations.

BIAS-2015 v2.0.0 automates ACMG variant classification, outperforming InterVar in sensitivity and speed using the FDA-approved eRepo dataset.

The paper introduces BIAS-2015, an open-source algorithm for automating ACMG variant classifications, and benchmarks it against the FDA-approved eRepo dataset.