Pie Chart from Scientific Research

Exome sequencing was performed predominantly in children. The main indications for exome sequencing in children were neurodevelopmental disorders. In adults, the main indications were neurological/neuromuscular disorders. In both children and adults, the least common disease categories were cardiovascular, endocrine, metabolic, mitochondrial, nutritional (emmn) and hematopoiesis/immune system (his).

DOI