A hybrid method models squared losses from Bayesian CNV posteriors with a Gamma distribution on validation samples to produce tolerance intervals with valid frequentist coverage, achieving single-digit mean absolute coverage error on targeted amplicon panels.
Classifying copy num- ber variations using state space modeling of targeted sequencing data: A case study in thalassemia.arXiv preprint arXiv:2504.10338
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Combining Bayesian and Frequentist Inference for Laboratory-Specific Performance Guarantees in Copy Number Variation Detection
A hybrid method models squared losses from Bayesian CNV posteriors with a Gamma distribution on validation samples to produce tolerance intervals with valid frequentist coverage, achieving single-digit mean absolute coverage error on targeted amplicon panels.