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Exome sequencing yields target gene

Yale Medicine Magazine, 2011 - Autumn


Yale researchers have identified genetic mutations that can trigger severe hypertension through tumor formation in the adrenal gland—in a gene they had no plans to study, according to Richard Lifton, M.D., Ph.D., chair and Sterling Professor of Genetics, professor of medicine, and corresponding author of a paper published in the February 11 issue of the journal Science.

“This gene was not on anybody’s list to sequence in an investigation of this disease,” said Lifton, who is a Howard Hughes Medical Institute investigator. “We really hit the jackpot.” The findings are a major step in understanding the causes of high blood pressure, which afflicts one out of every three Americans.

Lifton and his team, which included investigators from Uppsala University in Sweden, New York Medical College, and Henry Ford Hospital, found the mutations using whole-exome sequencing—a technique that decodes all of a patient’s genes rather than just a few suspect gene targets.

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