Rare variants analysis by risk-based variable-threshold method
We propose a risk-based variable-threshold method in association analysis of rare variants. Existing methods of pooling similar rare variants were based on quantities calculated from control group. Our method pools rare variants with similar relative risk calculated based on the ratio of variant frequencies between cases and controls. Our method effectively provides the global optimal pooling/grouping method among all possible ways of grouping. Simulation results show that our method gains more power than existing methods.
rare variants genome-wide association study pooled association tests variable-threshold approach