Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse populations
Claudia Ching Yan Chung, Shirley P.Y. Hue, Nicole Y.T. Ng, Phoenix Hoi Lam Doong, Annie Chu, Brian Hon‐Yin Chung
Topics & Concepts
MedicineExomeExome sequencingProbandMeta-analysisOdds ratioInternal medicineCohortGeneticsBiologyMutationGeneGenomics and Rare DiseasesHereditary Neurological DisordersGlycogen Storage Diseases and Myoclonus