December 16, 2025

What is Exome?

The exome refers to all protein-coding regions of the human genome. Although it constitutes only **1–2% of the genome**, more than 85% of known genetic diseases are located within exons. For this reason, exome analysis forms the foundation of modern diagnostic genetic testing.
December 16, 2025

What is Exome?

The exome consists of all protein-coding regions, which make up only 1–2% of the genome. Because the vast majority of genetic diseases originate in these regions, exome analysis has become one of the most critical tools in modern diagnostic genetic testing.