Whole Exome Sequencing
The sum of all coding regions in a genome is called the exome. In humans, this includes 23,000 genes with approximately 50 million bases. With Whole Exome Sequencing (WES), all exons (protein-coding regions) are analyzed. The genetic testing is therefore focused on the analysis of the 1-2% of the human genome where 85% of known pathogenic mutations are found.