Dr. Rachid Karam explains how RNA testing increases diagnostic yield and reduces variants of uncertain significance in cancer and exomes.
All tagged rare disease diagnosis
#274 Wolfram Syndrome with Stephanie Snow Gebel
Episode drop of “It Happened To Me” focusing on the rare disease Wolfram Syndrome.
#223 PhenoTips: Rare Disease Diagnosis Workflow
Learn how to build integrated workflows for rare disease diagnosis from PhenoTips’ Dr. Orion Buske and Charles Keenan.