Whole Exome Sequencing

WES

Today, thanks to advances in technology, much of the data regarding the human genome can be accessed more comprehensively in a shorter time.

Advances in next-generation sequencing technology have enabled the large-scale examination of changes in DNA sequences and have enabled the investigation and elucidation of the genetic causes of diseases at many levels, from cancer to autoimmune diseases, from single-gene diseases to prenatal diagnosis, as well as the detection of point mutations, genomic losses or gains, and fusion genes.

In this way , clinical diagnosis can be made in many cases that cannot be diagnosed clinically .

Aim

Whole Exome Sequencing (WES), also known as Tüm Eksom Sequencing (Tum Exom Sequencing), is a genetic testing method. It analyzes DNA sequences across all exonic regions of an individual. Exons are the protein-coding portions of genes and constitute approximately 1-2% of the human genome. However, we know that this small portion plays a role in a large number of genetic diseases.

WES is often used to diagnose genetic diseases or identify previously undiagnosed genetic conditions. It is an important tool in the medical field, particularly in investigating the genetic causes of unidentified or complex clinical conditions.

Nasıl?

In this method, after a blood sample is taken, DNA is extracted, and sequenced, the DNA sequences corresponding to the exon sequences in the resulting genome are analyzed using bioinformatics software. Potential genetic variants are identified, and their potential disease associations (genotype-phenotype) are evaluated.

WES allows detailed examination of many genes simultaneously and plays an important role in the diagnosis of rare genetic disorders.