Newborn screening by rapid whole genome sequencing (IMAGE)

Rady Children's Institute for Genomic Medicine

Newborn screening by rapid whole genome sequencing

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Because highly successful NBS has not kept pace with genome or therapeutic innovation, we adapted rWGS for comprehensive NBS. NBS-rWGS for 388 disorders had 99.7% specificity, 88.8% sensitivity, and could have avoided symptoms completely in seven of 2,208 critically ill infants, mostly in 21, and partially in 13.

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Rady Children's Institute for Genomic Medicine

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