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) |