Clinical Exome Sequencing

Genes are regions on DNA that are responsible for encoding proteins. Inside each gene, there are subregions called exons and introns. During the construction of proteins, intron regions are removed and introns are not included in the final form of the protein. The actual code that forms the protein is registered in the exon regions. Exom is the whole DNA sequence of genes that provide the production of proteins necessary for the function of the body.

Exome sequencing is the sequencing of protein-coding regions of all of a person's genes. With this test, approximately 45 Mb of the total genome is sequenced. This means a sequencing process of about 20,000 genes per person and 650 million nucleotides.

Exom sequencing, among individuals suitable for testing after genetic counseling;

• It begins with the collection of different biological materials, such as whole blood, tissue or saliva samples.
• It continues with DNA extraction from biological material.

Following the creation of the exome data with the new generation sequencing system, the genetic data obtained in the person so the genetic data lists are prepared (Standard bioinformatics) followed by the operation of the clinical data (Clinical bioinformatics).