Cracking the code of a half million exomes
Every one of us comes with an instruction manual – a step-by-step guide to building us, called a genome – that is 3 billion letters. It's a long read.
But there is another hidden manual within our genomes that many of us haven’t heard of, called the exome. To understand the exome we must to go back to 2003, when scientists first mapped the human genome - a decade long mission that gave the first full map of human DNA.
Not all DNA is the same. In fact, only about 2 percent of DNA is used to help make things our bodies need. These rare bits of code are called genes, and together all our genes make up the exome.
Medical researchers focus on the exome because it includes all the DNA code necessary to make large, complex molecules called proteins. Proteins play a critical role in the body, doing everything from building the structure of our cells, to sending messages around our body and attacking viruses and bacteria that might make us ill. As a result, many diseases can be attributed to problems with poorly-made proteins. Many medical treatments work by trying to overcome these problems.