Genetic & Genomic MedicineJournal of Medical GeneticsPeer-reviewed
Calibration and refinement of ACMG/AMP criteria for variant classification with BayesQuantify
Sihan Liu, Xiaoshu Feng, Yang Wu, Fengxiao Bu
BayesQuantify refines ACMG/AMP variant classification criteria using Bayesian methods, providing objective thresholds for evidence levels across multiple datasets.