Combining Bayesian and Frequentist Inference for Laboratory-Specific Performance Guarantees in Copy Number Variation Detection
结合贝叶斯与频率派推断:拷贝数变异检测中的实验室特异性性能保证
Targeted amplicon panels are widely used in oncology diagnostics, but providing per-gene performance guarantees for copy number variant (CNV) detection remains challenging due to amplification artifacts, process-mismatch heterogeneity, and limited validation sample sizes. While Bayesian CNV callers naturally quantify per-sample uncertainty, translating this into the frequentist population-level guarantees required for clinical validation, coverage rates, false-positive…