A Tertiary Care Clinical Sequencing Program for Patients with Suspected Immune Defects: Results from the First 1000 Families

The use of genomics in clinical research has evolved substantially over the past decade. For patients with immune defects, like other rare diseases, a timely molecular diagnosis reduces unnecessary testing, guides medical management, and facilitates genetic counseling. Interpretation of next-generation sequencing data from panel, exome, genome, and structural variant assays remains a challenge. For patients with inborn errors of immunity (IEI), the role of multiple molecular diagnoses and integration of copy number variant (CNV) analysis remains largely unexplored.