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Table 1 Model input parameters (main analysis)

From: Implications of using whole genome sequencing to test unselected populations for high risk breast cancer genes: a modelling study

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