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Quantifying Somatic Mutation Burden: An Assay Validation Framework and Implementation in SomaticCODEC

2026-05-05

Abstract excerpt

Validation of somatic mutation burden assays is fundamentally constrained by the absence of a robust ground truth, limiting the interpretability of performance metrics. To address this, we propose a framework based primarily on relative validation, complemented by a suite of secondary metrics aligned to common failure modes. We implement this approach in SomaticCODEC, a ready-to-run assay for quantifying SNV burde...

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Literature Corpus work
7717aa85-06de-5c96-a0cb-6e6cd08d21df
DOI
10.64898/2026.04.30.722079
Open publication

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