In 26 Hours, Sick Newborns Go From Genome Scan To Diagnosis

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the_newsbeagle writes: Parsing the first human genome took a decade, but times have changed. Now, within 26 hours, doctors can scan a sick baby’s entire genome and analyze the resulting list of mutations to produce a diagnosis. Since genetic diseases are the top cause of death for infants (abstract), rapidly diagnosing a rare genetic disease can be life-saving. The 26-hour pipeline results from automated technologies that handle everything from the genome sequencing to the diagnosis, says the doctor involved: “We want to take humans out of the equation, because we’re the bottleneck.” Read more of this story at Slashdot.

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In 26 Hours, Sick Newborns Go From Genome Scan To Diagnosis

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