[태그:] Pathogenic variants

🎯 Key Highlights Prioritization of WGS: For patients with Neurodevelopmental Disorders (NDDs)—particularly those with comorbid Intellectual Disability (ID)—Whole Genome Sequencing (WGS) serves as the most powerful first-tier diagnostic tool, providing an approximate 10% increase in diagnostic yield over conventional testing methods. Necessity of Trio Analysis: Precise interpretation through Trio-based analysis is essential, as complex variants…