A common DNA test used to find genes linked with disease may miss key genetic risk indicators, new research suggests.
Whole-exome sequencing—a technology that saves time and money by sequencing only protein-coding regions and not the entire genome—has been used in many studies to identify genes associated with disease, and by clinical labs to diagnose patients with genetic disorders.
However, the new research shows that these studies may routinely miss mutations in a subset of disease-causing genes that occur in regions of the genome that the cost-saving technology reads less often. A paper describing the research appears in the journal Scientific Reports.
“Although it was known that coverage—the average number of times a given piece of DNA is read during sequencing—could be uneven in whole-exome sequencing, our new methods are the first to really quantify this,” says coauthor Santhosh Girirajan, assistant professor of biochemistry and molecular biology and of anthropology at Penn State.
“Until the costs of whole-genome sequencing is no longer a barrier,” Girirajan says, “human genetics researchers should be aware of these limitations in whole-exome sequencing technologies.”
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