Genomics in newborn screening
- PMID: 23992678
- DOI: 10.1016/j.jpeds.2013.07.028
Genomics in newborn screening
Keywords: ACMG; American College of Medical Genetics; NGS; Next-generation sequencing; PCR; PKU; Phenylketonuria; Polymerase chain reaction; VLCAD; VUS; Variants of unknown significance; Very long chain acyl-CoA dehydrogenase; WES; WGS; Whole exome sequencing; Whole genome sequencing.
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