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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