Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates.
Dale L BodianElisabeth KleinRamaswamy K IyerWendy S W WongPrachi KothiyalDaniel StaufferKathi C HuddlestonAmber D GaitherIrina RemsburgAlina KhromykhRobin L BakerGeorge L MaxwellJoseph G VockleyJohn E NiederhuberBenjamin D SolomonPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2015)
WGS may help rule in and rule out NBS disorders, pinpoint molecular diagnoses, and detect conditions not amenable to current NBS assays.
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