Table 1 Model input parameters (main analysis)
Input parameters for main model | Values for BRCA1 | Values for BRCA2 |
|---|---|---|
Prevalence of pathogenic mutations in unselected population | 0.0012 | 0.002 |
Theoretical population size | 100000 | 100000 |
Proportion of pathogenic mutations that are small indels | 0.54 | 0.69 |
Proportion of pathogenic mutations that are SNVs (nonsense, pathogenic missense, splice site) | 0.36 | 0.21 |
Proportion of pathogenic mutations that are CNVs | 0.1 | 0.1 |
Gene coverage using WGS | 0.9941 | 0.9997 |
Sensitivity of WGS for small indels | 0.8 | 0.8 |
Sensitivity of WGS for SNVs | 0.97 | 0.97 |
Sensitivity of WGS of CNVs | 0 | 0 |
Specificity of WGS for indels | 1 | 1 |
Specificity of WGS for SNVs | 1 | 1 |
Specificity of WGS for CNVs | 1 | 1 |