Currently, more than 12,000 monogenic diseases have been reported worldwide. According to the statistics of the World Health Organization, the incidence rates of most monogenic diseases are 0.65-1%, and the total incidence rate exceeds 1%. The number of patients with monogenic genetic diseases worldwide has reached up to 20 million. Among them, the patients with severe or intermediate thalassemia number about 0.3 million. The number of carriers with thalassemia variants is up to 30 million. The human exome contains about 180,000 exons from protein-coding genes. Although the exome only accounts for 1% of the whole genome, it is closely related to multiple diseases. By now, 85% of human pathogenic mutations have been found in exons.
Whole exome sequencing can effectively help us clarify the genetic factors of monogenic diseases, deeply explore the internal relationship between diseases and genetic variations, and provide more scientific guidance for carriers and patients’ families.
