Quantifying Somatic Mutation Burden: An Assay Validation Framework and Implementation in SomaticCODEC
Joshua N. Johnstone, James Phie, Cameron Fraser
The paper introduces a framework for validating somatic mutation burden assays using relative validation and secondary metrics, implemented in SomaticCODEC with strong linearity and precision in human samples.
bioRxiv · May 5, 2026 · PreprintGenomics