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Sat, Mar 15

Genome sequencing stumbles towards the clinic

Sequencing a person’s entire genome can reveal potentially life-saving information about the presence of mutations associated with diseases. But there are drawbacks — a study published this week finds that current sequencing technology does not always capture the complete genome, and illustrates the challenges of interpreting what the results mean for an individual patient1. “There are many steps that have to be worked out to ensure that we gain the most health-care benefit,” says William Feero, a physician at the Maine Dartmouth Family Medicine Residency in Fairfield, Maine, who was not involved in the study. Read more.