Droplet Digital PCR as a First-Line Detection Tool in the Genetic Diagnosis of Vascular Anomalies
Tara K Lane, Timothy E. Green, Denisse Garza…·Michael S. Hildebrand
The paper evaluates ddPCR as a primary diagnostic tool for vascular anomalies, finding it detects 51% of pathogenic variants in a cohort, with an overall diagnostic yield of 75% when combined with NGS.