Litcius/Paper detail

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

2023Genetics in Medicine83 citationsDOIOpen Access PDF

Topics & Concepts

MedicineExomeExome sequencingProbandMeta-analysisOdds ratioInternal medicineCohortGeneticsBiologyMutationGeneGenomics and Rare DiseasesHereditary Neurological DisordersGlycogen Storage Diseases and Myoclonus