Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project
Robert C. Green, Nidhi Shah, Casie A. Genetti, Timothy W. Yu, Bethany Zettler, Melissa Kurtz Uveges, Ozge Ceyhan‐Birsoy, Matthew S. Lebo, Stacey Pereira, Pankaj B. Agrawal, Richard B. Parad, Amy L. McGuire, Kurt D. Christensen, Talia S. Schwartz, Heidi L. Rehm, Ingrid A. Holm, Alan H. Beggs
Topics & Concepts
PenetranceMedicineExome sequencingGenetic testingExomeMedical geneticsDiseaseIntervention (counseling)Newborn screeningIntensive care medicinePediatricsGeneticsMutationBiologyPhenotypePathologyInternal medicineNursingGeneGenomics and Rare DiseasesCancer Genomics and DiagnosticsEpigenetics and DNA Methylation