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Genomic Sequencing for Ill Newborns

JAMA Author Interviews

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The Implications of This Study for Healthcare Systems in the Field

I want to be clear to the audience, this is really targeting these ill babies. I think what we're seeing is a very high diagnostic yield and as a clinician I'm a neonatologist. These platforms or whole genomic sequencing or even whole exome sequencing can provide an enormous amount of what I believe will be useful information," he said. "We have six Kabuki syndromes out of 400 babies"

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