TABLE 2.
Reproducibility. The benchmark sample NA24385 was selected for intra-assay reproducibility evaluation, whereas NA24694 was included in all three independent workflows for inter-assay reproducibility evaluation. Coefficients of variation (CV) of quality metrics are reported.
| Reproducibility | Samples | SNVs | Indels | ||||
|---|---|---|---|---|---|---|---|
| Precision | Sensitivity | F-measure | Precision | Sensitivity | F-measure | ||
| NA24385 | 0.9970 | 0.9918 | 0.9944 | 0.9969 | 0.9948 | 0.9959 | |
| NA24385-2 | 0.9963 | 0.9914 | 0.9939 | 0.9952 | 0.9920 | 0.9936 | |
| Intra-assay | Mean | 0.9967 | 0.9916 | 0.9941 | 0.9961 | 0.9934 | 0.9947 |
| SD | 0.0005 | 0.0003 | 0.0004 | 0.0012 | 0.0020 | 0.0016 | |
| CV (%) | 0.0501 | 0.0322 | 0.0411 | 0.1221 | 0.1991 | 0.1607 | |
| NA24694 | 0.9992 | 0.9993 | 0.9993 | 0.9968 | 0.9980 | 0.9974 | |
| NA24694-2 | 0.9994 | 0.9993 | 0.9993 | 0.9974 | 0.9986 | 0.9980 | |
| Inter-assay | NA24694-3 | 0.9988 | 0.9989 | 0.9988 | 0.9963 | 0.9968 | 0.9966 |
| Mean | 0.9991 | 0.9991 | 0.9991 | 0.9968 | 0.9978 | 0.9973 | |
| SD | 0.0003 | 0.0002 | 0.0003 | 0.0005 | 0.0009 | 0.0007 | |
| CV (%) | 0.0312 | 0.0235 | 0.0271 | 0.0551 | 0.0909 | 0.0726 | |
SD, standard deviation; CV, coefficient of variation.