The role of exome sequencing in newborn screening for inborn errors of metabolism
Aashish N. Adhikari, Renata C. Gallagher, Yaqiong Wang, Robert J. Currier, George S. Amatuni, Laia Bassaganyas, Flavia Chen, Kunal Kundu, Mark Kvale, Sean D. Mooney, Robert L. Nussbaum, Savanna S. Randi, Jeremy R. Sanford, Joseph T.C. Shieh, Rajgopal Srinivasan, Uma Sunderam, Hao Tang, Dedeepya Vaka, Yangyun Zou, Barbara A. Koenig, Pui–Yan Kwok, Neil Risch, Jennifer M. Puck, Steven E. Brenner
Topics & Concepts
Exome sequencingNewborn screeningExomeInborn error of metabolismMedicineComputational biologyBioinformaticsGeneticsBiologyMutationEndocrinologyGeneMetabolism and Genetic DisordersGenomics and Rare DiseasesRNA modifications and cancer