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The Boston Globe

Health & wellness

Scientists hoping to ease interpretation of the DNA ‘book of life’

On paper, Dr. Robert C. Green should be worried. An analysis of his DNA flagged a rare mutation in a gene linked to a condition that causes facial deformities at birth. But Green only has to look in the mirror to know that he does not have the disorder, Treacher Collins syndrome.

“Most likely this is not a meaningful mutation,” the Brigham and Women’s Hospital geneticist said, pulling up alarming photos on his computer screen of people with the condition. “I know this, but imagine if you’re a pregnant woman and someone reported that mutation out to you about your baby. Can you imagine?”

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