- The human genome is the complete set of genetic material of an individual.
- The exome is composed of all the protein coding exons within the genome and comprises about 2% of the human genome.
- Whole exome sequencing (WES) is a technique for sequencing all the protein-coding genes in a genome.
- The goal of this approach is to accurately identify genetic variants in the target regions, and to do this at a much lower cost than whole-genome sequencing (WGS).
- Although the exome is a small part of the genome about 85% of all known disease-causing variants are located in the exome. WES has proven to be an efficient method to determine the genetic basis of many Mendelian or single gene disorders and common polygenic diseases, as well as more complicated diseases such as cancer.
- Sequencing is the process of determining the order of nucleotides in our DNA, the nucleotides are the building blocks of our DNA and are the set of four letters that make up the genetic code. Next-generation sequencing (NGS) is a sequencing technique that can allow rapid sequencing of large amounts of DNA at the same time.
- WHOLE EXOME SEQUENCING analyses all genes associated with a phenotype based on the clinical and molecular evidence according to several reference databases (i.e.: OMIM database: https://omim.org/). A team of geneticists and specialized clinicians interpret the results by utilizing information from the latest publications and databases to produce a comprehensive clinical statement.
- Due to the technological advances in genetic testing, WES can now be considered as a first-line genetic test in complex genetic cases. WES is increasingly used in healthcare and research to identify genetic variants that cause disease and to confirm diagnoses at a molecular level. Variants in the DNA that are not located in the exons but affect gene activity and protein production can be detected using whole genome sequencing (WGS), which pans the entire genome of an individual.