Uzbekistan

Whole Genome Sequencing

Whole Genome Sequencing (WGS)

What is Whole Genome Sequencing (WGS)?

Whole genome sequencing (WGS) is the study of the entire human DNA sequence, including both protein-coding regions (exome) and, non-coding 'silent' regions of the genome. WGS provides the most comprehensive information on known or previously undescribed genetic changes that may be associated with disease development.

Today, millions of patients with genetic conditions live without an established diagnosis. While testing a single gene or gene panels may reveal the cause in some cases, the overall diagnostic efficiency of such approaches remains limited.

Studying mutations in the coding regions of the genome using whole exome sequencing covers only 1–2% of the entire DNA.

According to current data, investigating non-coding DNA variants can provide valuable diagnostic insights for genetic conditions.

Whole genome sequencing (WGS) offers the most complete and comprehensive view of a patient’s genetic information.

Although WGS can detect significantly more genetic changes than single-gene or exome testing, the clinical significance of many such findings remains unclear.

Since not all genetic variants affect health, it is often impossible to say with certainty whether a detected variant is the cause of disease.

Sometimes, a detected variant may be associated with another genetic condition that had not previously been diagnosed. These are referred to as incidental or secondary findings.