A Likelihood Ratio Approach for Utilizing Case-Control Data in the Clinical Classification of Rare Sequence Variants: Application to BRCA1 and BRCA2

Figure 2

Performance of the case-control likelihood ratio method in providing ACMG/AMP evidence against pathogenicity, using simulated datasets. Power equals to the probability of reaching at least supporting benign ACMG/AMP evidence (LR ≤0.48) when the relative risk was set to 1. We performed 10,000 simulations for each case scenario. Results represent simulated case-control data for 20,000, 30,000, or 50,000 breast cancer cases and controls and minor allele frequency of 0.00003, 0.00005, or 0.0001. ccLR: case-control likelihood ratio; MAF: minor allele frequency; : sample size.