New Frontiers in Genetic Diagnosis: The Critical Role of CNV Analysis in Disease Detection
The Role of CNVs in the Evolution of Genetic Diagnostics Recent advances in molecular genetics have transformed the diagnosis of hereditary diseases. At the heart of this transformation lies Copy Number Variations (CNVs)—structural changes in the genome involving deletions or duplications of DNA segments. Especially in patients with unexplained clinical phenotypes, CNV analysis offers vital […]


