Table 3. Overall performance of GEM ExTra.
Variant | Specification | |
---|---|---|
Analytic Sensitivity | Single Nucleotide Variants (MAF > 1%) | 99.6% (CI 98.8–99.9) |
Small Insertions & Deletions (MAF > 2%) | 96.8% (CI 85.9–99.7) | |
Copy Number Alterations | 97.7% (CI 89.6–99.7) | |
Gene Fusions | 93.1% (CI 86.3–97.1) | |
Analytic Specificity (PPV) | Specificity | >99% (CI 97.4–99.2) |
MSI | Exome Wide | >99.9% Concordance |
TMB | Exome wide | 91% Concordance |