News & Updates

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.

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.