The role of exome sequencing in newborn screening for inborn errors of metabolism
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DOI: 10.1038/s41591-020-0966-5
Abstract: Public health newborn screening (NBS) programs provide population-scale ascertainment of rare, treatable conditions that require urgent intervention. Tandem mass spectrometry (MS/MS) is currently used to screen newborns for a panel of rare inborn errors of… read more here.
Keywords: exome sequencing; errors metabolism; newborn screening; inborn errors ... See more keywords