The combination of a new sequencing technique and machine learning may speed up the diagnosis of diseases in newborns, as well as reduce false positive results, Yale researchers say.
Blood is drawn shortly after a newborn’s birth to screen for a host of preventable diseases, including more than 40 rare but potentially disabling and serious metabolic disorders. The blood tests are highly sensitive and present one minor flaw: In many cases, they indicate a disorder when none is present.
This false positive result causes…
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