Rapid whole genome sequencing and precision neonatology
JE Petrikin, LK Willig, LD Smith, SF Kingsmore - Seminars in perinatology, 2015 - Elsevier
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. Analyzing the entire genome allows for
concomitant evaluation of the currently identified 5588 single gene diseases. When applied …
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. Analyzing the entire genome allows for
concomitant evaluation of the currently identified 5588 single gene diseases. When applied …
