What Is Whole-Exome Sequencing and Genome Sequence Analysis?

Human DNA consists of approximately 3 billion nucleotides. DNA is structured through combinations of four nucleotides—Adenine (A), Cytosine (C), Guanine (G) and Thymine (T)—and can therefore be likened to a book written with a sequence of letters. However, only approximately %2 of DNA contains protein-coding genes, meaning that a very small portion is used to produce proteins, the body’s functional building blocks. These protein-coding sections are called “exons” (exon), and the structure formed by all exons together is called the “exome” (exome). The exome represents a functional part of the genome, like a combination of genes.

The word exon derives from “EXpressed regiON” and indicates that this DNA region codes for (expresses) proteins. The remaining DNA regions that code for no protein are called introns (INTRagenic regiON).

Most diseases and all cancers result from damage occurring in DNA . Detecting this DNA damage is therefore vital for treatment because it also enables intervention. Examined in greater detail, most disease-causing mutations have been identified in DNA exon regions.

The human genome, located on 23 pairs of chromosomes, is the total of approximately 25 thousand genes.

Whole Genome Sequencing - WGS can be used to identify genomic DNA damage. This method examines the entire genome to investigate genetic disorders comprehensively, but can be costly and time-consuming. WGS use is increasing, particularly in cancer genetic research. However, whole-exome sequencing, examining only protein-coding regions—the exome—is considered a more practical and cost-effective method for screening DNA mutations.