Article
Rapid whole genome sequencing and precision neonatology.
Seminars in perinatology - 1 Dec 2015
Petrikin Joshua E, Willig Laurel K, Smith Laurie D, Kingsmore Stephen F
Abstract excerpt
Traditionally, genetic testing has been too slow or perceived to be impractical to initial management of the critically ill neonate. Technological advances have led to the ability to sequence and interpret the entire genome of a neonate in as little as 26 h. As the cost and speed of testing decreases, the utility of whole genome sequencing (WGS) of neonates for acute and latent genetic illness increases....
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