WES vs WGS vs Custom Panels
The human genome contains ~3 billion base pairs, approximately 1-5% of which are translated into functional proteins. Mutations in these proteins are
the most likely to result in a direct phenotypic consequence. Although whole-genome sequencing (WGS) provides rich information about single nucleotide, structural, or copy number variants, whole-exome sequencing (WES) often makes more sense when time or resources are limited.