Table 1. Validation of somatic and germline predictions.
Validation study | Call rate | Somatic variants predicted correctly | Germline variants predicted correctly |
---|---|---|---|
All variants in 30 lung & colon samples with matched-normal as gold standard (basic method) | 100% (568/568) | 67% (255/380) | 87% (164/188) |
All variants in 30 lung & colon samples with matched-normal as gold standard (SGZ) | 85% (480/568) | 95% (312/327) | 99% (151/153) |
All variants in 3 cell lines with varying proportions of tumor-normal admixture (basic method) | 100% (215/216) | 92% (83/90) | 41% (51/125) |
All variants in 3 cell lines with varying proportions of tumor-normal admixture (SGZ) | 83% (184/222) | 97% (60/62) | 97% (118/122) |
17 somatic hotspot mutations and 20 common germline variants in 20,182 clinical samples (basic method) | 100% (12506/12506) | 95% (7213/7560) | 51% (2537/4946) |
17 somatic hotspot mutations and 20 common germline variants in 20,182 clinical samples (SGZ) | 84% (9829/11646) | 96% (5325/5540) | 97% (4172/4289) |