In consequence, researchers are choosing a highly efficient method to answer their research questions by using WES. Additionally, whole exome sequencing is the most cost-effective solution to investigate genetic variations associated with a certain disease.
The technique of whole exome sequencing consists of two steps. Within the first step, the subset of regions that encode proteins, the exons, are captured. The captured targets are then isolated, washed, and eluted. After amplification, these targets are used for the second step – the sequencing of the exomic DNA.
Whole exome sequencing has some advantages in comparison to other technologies that identify genetic variants. In contrast to microarray-based genotyping, whole exome sequencing can be used to identify unexpected genetic changes. By that, whole exome sequencing addresses the previous limitations of microarray-based genotyping. In comparison to whole-genome sequencing, whole exome sequencing reveals the huge difference between the exonic and intronic regions: In exome sequencing, only 1-2% of the whole genome are sequenced, allowing for a higher sequencing depth, and decreasing the sequencing costs.