Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project
Lilian Downie, Jane Halliday, Sharon Lewis, Sebastian Lunke, Elly Lynch, Melissa Martyn, Clara Gaff, Anna Jarmolowicz, David J. Amor
Topics & Concepts
Exome sequencingMedicineNewborn screeningExomeGenomic sequencingPopulationCohortGenetic counselingAnxietyPediatricsFamily medicinePsychiatryGeneticsMutationPathologyBiologyGenomeGeneEnvironmental healthGenomics and Rare DiseasesBRCA gene mutations in cancerPrenatal Screening and Diagnostics