Table 1.
Feature | WGS | WES |
---|---|---|
Exonic variants | Yes | Yes |
Intronic variants | Yes | No |
Intergenic variants | Yes | No |
Indels | Yes | Yes |
Copy number variations | Yes | Not directly/imprecise |
Large insertions and deletions | Yes | Not directly/imprecise |
Transposable elements | Yes | Not directly/imprecise |
Detection of copy number variations, large insertion and deletions, as well as of transposable elements are imprecise in WES since data are available for coding regions only, and these events can originate elsewhere