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May 21, 2026Statistical Applications in Genetics and Molecular Biology

Performance of the permutation test approach with base calling errors for detecting changes in variant allele frequencies in ctDNA for a single patient

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Authors

AKAya KuchibaJNJo NishinoSYShinichi Yachida

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Overview

Randomized trial evaluates a new test for monitoring variant allele frequency changes in ctDNA, suggesting improved disease tracking.

Key Points

  • This research aims to evaluate the performance of a permutation test for detecting changes in variant allele frequencies (VAFs) in circulating tumor DNA (ctDNA) considering base calling errors.
  • Introduced likelihood functions accounting for base calling error probabilities.
  • Employed a permutation test to assess VAF changes between two time points for one patient.
  • Conducted simulation studies based on realistic NGS analysis data from the TOP-GEAR project.
  • Test maintained nominal significance level of 0.05 regardless of error probabilities and VAFs.
  • Achieved 80% power for detecting a twofold increase in VAF starting from 0.05 at baseline.
  • Demonstrated capability to detect a half or more decrease from a baseline VAF of 0.1.

Cite This Study

Kuchiba et al. (2026) studied this question.

synapsesocial.com/papers/6a0ea188be05d6e3efb60548https://doi.org/10.1515/sagmb-2024-0020
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