|
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
|
