Thomas M. Blomquist

The paper establishes reference samples with high-coverage whole-genome sequencing to create truth sets for somatic mutation and germline variant detection using NGS technologies.

This study evaluates reproducibility and accuracy of cancer mutation detection using whole-genome and whole-exome sequencing across multiple sequencing centers and bioinformatics pipelines.

This paper develops a targeted NGS method with synthetic internal standards to improve detection of actionable mutations in ctDNA, increasing sensitivity and enabling quality control metrics.