Researchers funded by the National Institutes of Health have combined whole genome sequencing with machine learning to diagnose rare genetic diseases in newborns in record time. Their approach diagnosed a typical case in an average of 20 hours, compared to the average of 16 days for traditional sequencing.
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Science Update: Genomic sequencing finds that standard screens miss disease risk in 9 percent of newborns
Genomic sequencing identified a higher risk of childhood genetic disorders in 9 percent of newborns who had passed standard screening for these diseases, according to researchers funded by the National Institutes of Health. The findings, from the BabySeq Project, are part of a larger effort to examine whether newborn genomic sequencing is suitable for routine health care.
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