Exon is a part of eukaryotic genome sequence. The exome is the total of all exons, which takes one percent in the whole genome sequence of human beings. The exome sequencing
is to capture and enrich the exome in the whole genome sequence by targeted capture, and get the genomic information by next generation sequencing.
Because it has a lower cost than whole genome sequencing, and it can know more protein-coding information at the same cost, it is widely used for all kinds of disease research.
Nerve related diseases
It is well-known that the mutations of APP, PSEN1, and PSEN2 will lead to the Alzheimer’s disease. However, in the research of Guerreiro on 95 patients with AD, he found the mutation of NOTCH3 in exome. That means that the NOTCH3 may have relationships with AD. Cheng’s research of autism spectrum disorder found that ANK3may be related to ASDS. Veltman of human genome research institute in Holland found that new mutation was the key factor of mentally handicapped, and the exome sequencing could be the best detection method.
Disease like sickle cell disease is caused by mutation of a single gene. It is also called Mendelian disorders. For a long time researchers identify the pathogenesis by analyzing the genetic model of family. This situation changed with the appearance of exome sequencing. By filtration of unchanged and common mutation, researchers can identify the mutation gene precisely.
Keep reading: The Application of Exome Sequencing in Disease Research