Genome and Exome


What is a genome and an exome?

A genome is the entire DNA sequence of a person. This encodes for all of the molecular machinery that has created your unique self. Out of the entire genome only 1 to 2% is filled with protein coding genes. (discussed on our ‘Genes’ page) An exome is only the protein coding portions of our genome.

The exome captures much of the variants that we associate with diseases, without having to sequence the much larger genome. However, with further advances in technology and our understanding of human genomics, we are seeing rapid expansion in the importance of the DNA regions between genes (intergenic regions) for disease associations, which are only captured in genome sequencing and not exome sequencing. Simply put, the genome comprises everything, the exome is a subset of “everything” and both are becoming increasingly valuable in health research and diagnostics.