For the first time, researchers have made a clinical diagnosis by sequencing the entire protein-coding parts of a person's genome.
"We have shown that one can use whole genome sequencing to make clinically meaningful diagnoses- it is technically feasible . . . and can provide new clinical insight that directs treatment," Richard Lifton, a geneticist at Yale who spearheaded the research, told Popsci.com.
Protein-coding DNA only makes up about one percent of the human genome, but is responsible for about a large portion of diseases with a genetic component.