Researchers pilot predictive medicine by studying healthy people’s DNA

4 junio 2015

Scientists have turned traditional genomics research on its head. Instead of trying to find a mutation in the genome of a person with a genetic disease, they sequenced the genomes of healthy participants, and then analyzed the data to find presumed mutations that would almost certainly lead to a genetic condition. Of nearly 1,000 volunteers whose genomes were examined, about 100 had variants predicting a rare disease. Almost half actually had the disease.