One of the many surprises to stem from sequencing the human genome was the revelation that protein-coding sequences make up a relatively small proportion of our DNA. These exons, collectively known as the exome, account for less than 2 percent of the human genome. Still, scientists often search through exomes for the genetic basis of diseases—and such searches have proven fruitful, identifying the culprits behind rare diseases and pathological genetic changes in tumors. But researchers are increasingly realizing that whole-exome sequencing tells only part of the story: Mutations in noncoding regions of the genome can also cause disease—for example, by affecting the transcription of a gene.
To begin to uncover some of these overlooked effects, researchers recently analyzed the whole genome sequences of more than 150,000 individuals from the UK Biobank, a massive database that contains DNA samples and phenotypic data from 500,000 individuals. Their findings, published July 20 in ...
