Assistant Professor University of Michigan Michigan, Michigan, United States
Description: The seminar will explain the fundamental principles of absolute copy number (ACN) analysis and its critical role in accurately interpreting somatic variant allele frequencies from clinical NGS data. It will also describe the methodologies used to simultaneously estimate tumor purity, whole-genome ploidy, and cancer cell fraction (CCF) from NGS-derived copy number profiles.
Learning Objectives: - Identify key analytical and operational steps for successfully integrating ACN analysis into an existing clinical NGS testing workflow, from sample quality control to final reporting. - Interpret the clinical significance of purity, ploidy, and CCF metrics in assessing tumor heterogeneity, identifying subclonal architecture, and clarifying the prognostic or therapeutic relevance of detected mutations. - Evaluate the common challenges, artifacts, and limitations of absolute copy number analysis, particularly when dealing with low-purity specimens, highly aneuploid tumors, and other complex sample types.
