3 papers
stat.ME2026
Combining Bayesian and Frequentist Inference for Laboratory-Specific Performance Guarantees in Copy Number Variation Detection
Austin Talbot, Alex V. Kotlar, Yue Ke
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 a…
q-bio.GN2026
Detecting Batch Heterogeneity via Likelihood Clustering
Austin Talbot, Yue Ke
Batch effects represent a major confounder in genomic diagnostics. In copy number variant (CNV) detection from NGS, many algorithms compare read depth between test samples and a re…
q-bio.GN2025
Classifying Copy Number Variations Using State Space Modeling of Targeted Sequencing Data: A Case Study in Thalassemia
Austin Talbot, Alex Kotlar, Lavanya Rishishiwar +1
Thalassemia, a blood disorder and one of the most prevalent hereditary genetic disorders worldwide, is often caused by copy number variations (CNVs) in the hemoglobin genes. This d…