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A consensus-based classification workflow to determine genetically inferred ancestry from comprehensive genomic profiling of patients with solid tumors

October 29, 2024

This manuscript describes a consensus-based classification workflow for inferring genetic ancestry from comprehensive genomic profiling (CGP) of slide tumors with the Illumina TruSight® Oncology 500 (TSO500) assay. Key takeaways include race and ethnicity are important factors to consider when performing clinical cancer research, but often times this information is missing or not accurately measured in real-world data.  Ancestry inferred through genetics can more accurately capture the biogeographical ancestry of a patient and be used in place of self-identified race and ethnicity. Accurate ancestry inference provides needed information to enable ancestry-aware clinical and biomarker research, making findings generalizable to more diverse patient populations.

Published in: Briefings in Bioinformatics