Whole Exome Sequencing (WES) is one of the most important test panel developed by genetic technology recently. With this test, variations in the DNA of the functional regions of the genome called exon can be determined. Exome is the whole DNA sequence of genes that provide the production of proteins necessary for your body's function. Many of the disease-causing mutations that science has been able to identify have been detected in exon regions of DNA. While most of the genetic tests that have been carried out until recentl years have only screened one gene or several genes thought to be related to the disease, WES test simultaneously scans thousands of genes. This feature makes WES one of the most effective methods to reveal the causes of complex genetic problems.
WES test is ideal for finding new mutations and identifying atypical signs of the disease. All exons in the human genome are subjected to sequence analysis with whole exome sequence analysis and are of great importance in making a definitive diagnosis of the disease, especially in patients who have not been clinically diagnosed. In families carrying genetic diseases, it is important to establish a definitive diagnosis of the disease with mutation detection in order to maintain a healthy family lineage. In addition, the presence of the gene responsible for the disease enables families with affected children to determine whether the baby is sick in the womb during their new pregnancy, and to prevent the disease with the genetic examination during the IVF stage.
Less than 2% of the human genome corresponds to protein-coding genes; this represents ~ 200,000 exons of ~ 50,000 paired pairs of approximately 50 Mb. The function of the rest of the genomes is largely unknown. Regions with coding potential are generally referred to as "exomes". The vast majority of the disease causes mutations. Approximately 85% of the mutations in our country, which are caused by kinship and are the factors of the conditions known as Mendelian diseases, are in these coded exons.
Exome tests together with genetic material belonging to parents and affected children are examined at the same time. In this way, the mutation type belonging to the family from the changes that occur after sequencing is reported by matching with the information from the mother and father. Thanks to this triple analysis, the genetic disease carried by the family can be revealed in a healthier way.