Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewed
Genomic sequencing for newborn screening: Results of the NC NEXUS project
Tamara S. Roman, Stephanie B. Crowley, Myra I. Roche…·Jonathan S. Berg
The paper evaluates exome sequencing in newborn screening, finding high diagnostic yield for metabolic disorders but limited actionable results for hearing loss and identifying carrier status variants.
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