Genomic sequencing for newborn screening: Results of the NC NEXUS project
Tamara S. Roman, Stephanie B. Crowley, Myra I. Roche, Ann Katherine M. Foreman, Julianne M. O’Daniel, Bryce A. Seifert, Kristy Lee, Alicia Brandt, Chelsea E. Gustafson, Daniela M. DeCristo, Natasha T. Strande, Lori A. Ramkissoon, Laura V. Milko, Phillips Owen, Sayanty Roy, , 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.
The American Journal of Human Genetics · Aug 26, 2020Peer-reviewedGenetic & Genomic Medicine