Skip to main content

Table 1 Sensitivities for whole genome sequencing (WGS) and whole exome sequencing (WES) SNVs

From: Medical implications of technical accuracy in genome sequencing

Function Gene set WGS SNV sensitivity WES SNV sensitivity
Non-synonymous ClinVarOMIM 0.979 (0.970,0.985) 0.936 (0.923,0.948)
Non-synonymous Exome 0.979 (0.975,0.982) 0.936 (0.930,0.942)
Splicing ClinVarOMIM 0.889 (0.565,0.994) 0.556 (0.267,0.811)
Splicing Exome 0.951 (0.865,0.983) 0.629 (0.505,0.738)
Synonymous ClinVarOMIM 0.988 (0.982,0.992) 0.952 (0.942,0.961)
Synonymous Exome 0.985 (0.983,0.988) 0.952 (0.947,0.956)
Truncating ClinVarOMIM 1.000 (0.646,1.000) 1.000 (0.646,1.000)
Truncating Exome 1.000 (0.924,1.000) 0.915 (0.801,0.966)
Whole genome N/A 0.954 (0.954,0.955) 0.053 (0.053,0.053)
  1. Sensitivity for different categories of potentially functional variants across different gene categories. Parentheses contain 95 % binomial confidence intervals